(used for variant description)
(last modified April 4, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004830.3 in the MED23 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering MED23 transcript NM_004830.3.
(upstream sequence)
. g.5010
ttccgtacag c.-181
. . . . . . g.5070
gttcctgctgttggctgggctcgggagggaacgctccaggtaaagcgctgggggaggaag c.-121
. . . . . . g.5130
cgacgccgaggagctacggtttcctccagaggtctccgcccctctgcccctatattccca c.-61
. . . . . . g.5190
gagctcgagtctgatccgggccttgccgggcaccctggaaaggcgggggtgatagtacag c.-1
. . . | 02 . . g.5588
ATGGAGACGCAACTGCAGAGCATTTTCGAAGAGGTGGTG | AAAACGGAAGTTATAGAAGAG c.60
M E T Q L Q S I F E E V V | K T E V I E E p.20
. | 03 . . . . . g.5805
GCTTTTCCTGG | CATGTTTATGGATACTCCTGAAGATGAGAAAACAAAACTAATTAGCTGT c.120
A F P G | M F M D T P E D E K T K L I S C p.40
. . . | 04 . . g.8271
TTGGGGGCCTTCAGACAGTTTTGGGGTGGTCTTTCTCAG | GAGTCTCATGAACAGTGTATC c.180
L G A F R Q F W G G L S Q | E S H E Q C I p.60
. . . . . . g.8331
CAGTGGATTGTTAAGTTTATTCATGGTCAGCATAGTCCTAAAAGAATTTCTTTTCTTTAT c.240
Q W I V K F I H G Q H S P K R I S F L Y p.80
. . . . | 05 . . g.9793
GACTGCTTAGCAATGGCAGTTGAGACTGGTCTCCTTCCACCCAG | GCTGGTTTGTGAATCC c.300
D C L A M A V E T G L L P P R | L V C E S p.100
. . . . . . g.9853
CTGATAAACTCTGACACTCTTGAGTGGGAAAGAACACAGCTTTGGGCCTTAACATTTAAA c.360
L I N S D T L E W E R T Q L W A L T F K p.120
. . . | 06 . . . g.11284
CTGGTTCGGAAAATAATTGGGGGAGTGGATTACAAG | GGTGTTCGAGATCTCTTAAAAGTG c.420
L V R K I I G G V D Y K | G V R D L L K V p.140
. . . . . . g.11344
ATTTTGGAGAAGATTTTGACAATTCCTAATACAGTGAGCTCTGCTGTTGTACAGCAGCTT c.480
I L E K I L T I P N T V S S A V V Q Q L p.160
. | 07 . . . . . g.12555
CTGGCAGCAAGAGAG | GTTATAGCATATATCTTGGAAAGAAATGCCTGCTTATTACCAGCC c.540
L A A R E | V I A Y I L E R N A C L L P A p.180
. . . . . | 08. g.13346
TATTTTGCAGTCACTGAGATCAGGAAACTGTATCCTGAAGGCAAACTTCCACACTGG | TTA c.600
Y F A V T E I R K L Y P E G K L P H W | L p.200
. . . . . . g.13406
CTTGGAAACCTAGTATCAGACTTTGTGGATACCTTCAGGCCCACAGCAAGGATAAACTCC c.660
L G N L V S D F V D T F R P T A R I N S p.220
| 09. . . . . . g.14773
ATTTGTG | GTCGCTGTAGTCTTCTGCCAGTTGTAAATAATTCGGGTGCCATTTGTAATTCA c.720
I C G | R C S L L P V V N N S G A I C N S p.240
. . . . . . g.14833
TGGAAACTGGATCCTGCTACTCTTCGTTTTCCTTTGAAAGGCCTTTTGCCATATGATAAG c.780
W K L D P A T L R F P L K G L L P Y D K p.260
| 10 . . . . . . g.17297
| GATCTGTTTGAACCACAGACTGCTTTGTTGAGATATGTATTGGAGCAGCCTTATTCCAGG c.840
| D L F E P Q T A L L R Y V L E Q P Y S R p.280
. . . | 11 . . . g.23017
GATATGGTCTGCAATATGCTAGGTTTAAATAAGCAG | CACAAGCAGCGCTGCCCTGTGCTG c.900
D M V C N M L G L N K Q | H K Q R C P V L p.300
. . . . . . g.23077
GAGGACCAGTTGGTGGATCTGGTTGTTTATGCCATGGAGCGATCTGAGACCGAGGAGAAG c.960
E D Q L V D L V V Y A M E R S E T E E K p.320
. . . . . . g.23137
TTTGACGATGGGGGAACAAGCCAACTCCTGTGGCAGCATCTCTCAAGTCAGCTCATTTTC c.1020
F D D G G T S Q L L W Q H L S S Q L I F p.340
. . . . . | 12. g.25171
TTTGTGCTTTTCCAGTTTGCAAGTTTTCCACATATGGTGCTTTCTCTTCATCAGAAG | TTA c.1080
F V L F Q F A S F P H M V L S L H Q K | L p.360
. . . . . . g.25231
GCAGGGCGAGGACTGATTAAAGGCAGAGATCATCTTATGTGGGTTCTCCTGCAATTCATT c.1140
A G R G L I K G R D H L M W V L L Q F I p.380
. . . . . . g.25291
TCTGGAAGTATTCAGAAAAATGCACTAGCTGATTTTCTCCCTGTGATGAAGCTCTTCGAC c.1200
S G S I Q K N A L A D F L P V M K L F D p.400
. . | 13 . . . . g.26654
TTGCTATACCCAGAAAAAGAA | TATATCCCAGTTCCTGATATTAACAAACCCCAGTCAACC c.1260
L L Y P E K E | Y I P V P D I N K P Q S T p.420
. . . . . . g.26714
CATGCCTTTGCAATGACCTGTATTTGGATTCATCTCAATAGAAAAGCTCAAAATGACAAC c.1320
H A F A M T C I W I H L N R K A Q N D N p.440
. . . . | 14. . g.27767
TCCAAGCTACAGATTCCAATACCTCATTCCCTAAGACTTCACCATGA | GTTCCTGCAGCAG c.1380
S K L Q I P I P H S L R L H H E | F L Q Q p.460
. . . . . . g.27827
AGTCTAAGAAATAAAAGTTTACAGATGAATGACTATAAGATTGCTCTATTGTGTAATGCA c.1440
S L R N K S L Q M N D Y K I A L L C N A p.480
. . . . . . g.27887
TACTCTACAAATTCAGAATGTTTTACATTACCCATGGGAGCTCTGGTAGAAACTATTTAT c.1500
Y S T N S E C F T L P M G A L V E T I Y p.500
. . . . . . g.27947
GGAAATGGAATTATGAGGATACCTCTCCCTGGAACAAACTGTATGGCTTCAGGATCTATT c.1560
G N G I M R I P L P G T N C M A S G S I p.520
. . . . . | 15 . g.28926
ACCCCCTTACCTATGAACCTCCTGGATTCACTGACAGTTCATGCCAAAATGAG | CCTTATT c.1620
T P L P M N L L D S L T V H A K M S | L I p.540
. . . . . . g.28986
CACAGCATTGCAACCAGGGTGATAAAACTTGCTCATGCAAAGTCCAGTGTGGCCTTGGCT c.1680
H S I A T R V I K L A H A K S S V A L A p.560
. . . . . . g.29046
CCAGCCCTAGTGGAAACTTACAGTCGTTTATTGGTCTATATGGAAATAGAGTCTTTGGGC c.1740
P A L V E T Y S R L L V Y M E I E S L G p.580
. | 16 . . . . . g.30079
ATCAAAGGATTTATCA | GTCAGCTTTTGCCAACTGTTTTCAAATCACATGCATGGGGGATC c.1800
I K G F I S | Q L L P T V F K S H A W G I p.600
. . . . . . g.30139
TTACACACACTCCTTGAGATGTTTAGCTACCGGATGCATCATATTCAGCCTCATTACAGA c.1860
L H T L L E M F S Y R M H H I Q P H Y R p.620
. . . . . . g.30199
GTTCAGCTCCTGAGTCATCTTCATACTTTGGCTGCAGTTGCACAAACAAACCAGAACCAG c.1920
V Q L L S H L H T L A A V A Q T N Q N Q p.640
. | 17 . . . . . g.30907
CTCCATCTTTG | TGTCGAGAGCACTGCTCTCAGGCTTATAACAGCATTAGGTAGCTCAGAG c.1980
L H L C | V E S T A L R L I T A L G S S E p.660
. . . . . . g.30967
GTACAACCGCAGTTTACACGCTTCCTTAGTGATCCCAAAACAGTGCTCTCAGCAGAATCT c.2040
V Q P Q F T R F L S D P K T V L S A E S p.680
. . . . . | 18 . g.33082
GAAGAACTGAACCGAGCCTTGATATTGACCTTGGCTAGAGCAACTCATGTAACAG | ATTTT c.2100
E E L N R A L I L T L A R A T H V T D | F p.700
. . . . . . g.33142
TTTACAGGCTCTGATTCAATTCAGGGAACTTGGTGTAAAGACATACTTCAGACCATCATG c.2160
F T G S D S I Q G T W C K D I L Q T I M p.720
. . . . . . g.33202
AGTTTCACTCCTCATAATTGGGCTTCACACACCCTGAGCTGTTTTCCAGGCCCACTACAG c.2220
S F T P H N W A S H T L S C F P G P L Q p.740
| 19 . . . . . . g.34538
| GCATTCTTCAAACAAAATAATGTGCCTCAGGAAAGCCGTTTTAATCTGAAAAAAAATGTG c.2280
| A F F K Q N N V P Q E S R F N L K K N V p.760
. . . . . . g.34598
GAGGAGGAGTATAGGAAGTGGAAGTCAATGAGCAACGAAAACGACATTATTACCCACTTC c.2340
E E E Y R K W K S M S N E N D I I T H F p.780
. . . . . . g.34658
TCTATGCAGGGCTCCCCTCCTCTCTTTCTTTGTCTTCTCTGGAAAATGCTCTTGGAAACA c.2400
S M Q G S P P L F L C L L W K M L L E T p.800
. . | 20 . . . . g.34806
GATCATATTAATCAGATTGGCTATAG | AGTATTAGAGAGAATTGGAGCCAGGGCCTTGGTA c.2460
D H I N Q I G Y R | V L E R I G A R A L V p.820
. . . . . . g.34866
GCCCATGTGAGGACATTTGCAGATTTCCTGGTATATGAGTTTTCTACATCAGCAGGGGGT c.2520
A H V R T F A D F L V Y E F S T S A G G p.840
. . . . . . g.34926
CAGCAACTCAATAAATGCATTGAAATTCTTAATGACATGGTATGGAAGTATAACATTGTT c.2580
Q Q L N K C I E I L N D M V W K Y N I V p.860
. . | 21. . . . g.36584
ACACTGGACAGATTAATTCTCTGCCTG | GCCATGCGTAGTCACGAAGGAAATGAAGCCCAG c.2640
T L D R L I L C L | A M R S H E G N E A Q p.880
. . . . . . g.36644
GTTTGTTATTTCATAATTCAGTTGCTGTTACTCAAACCAAACGATTTTAGAAATCGAGTA c.2700
V C Y F I I Q L L L L K P N D F R N R V p.900
. . . . . . g.36704
AGTGACTTTGTGAAGGAAAATTCCCCAGAGCACTGGTTACAGAATGACTGGCACACCAAG c.2760
S D F V K E N S P E H W L Q N D W H T K p.920
. | 22 . . . . g.37118
CACATGAATTATCACAAG | AAATATCCAGAGAAGTTGTATTTTGAGGGCCTCGCGGAACAG c.2820
H M N Y H K | K Y P E K L Y F E G L A E Q p.940
. . . . . . g.37178
GTGGATCCTCCTGTACAGATCCAGTCTCCCTATCTGCCCATCTATTTTGGGAATGTGTGT c.2880
V D P P V Q I Q S P Y L P I Y F G N V C p.960
. . . . . . g.37238
CTTCGATTCCTTCCAGTATTTGATATAGTAATCCACAGATTTTTAGAGTTGCTTCCGGTA c.2940
L R F L P V F D I V I H R F L E L L P V p.980
. . . . . | 23 . g.38909
TCCAAATCACTGGAGACTCTACTGGATCATCTAGGAGGCTTATATAAATTTCATG | ATCGT c.3000
S K S L E T L L D H L G G L Y K F H D | R p.1000
. . . . . . g.38969
CCAGTGACTTATCTGTATAACACTCTGCACTATTATGAAATGCACCTGAGAGACCGCGCA c.3060
P V T Y L Y N T L H Y Y E M H L R D R A p.1020
. . . . . . g.39029
TTTCTCAAACGAAAACTCGTCCATGCGATCATTGGCTCTCTGAAGGATAATCGACCGCAG c.3120
F L K R K L V H A I I G S L K D N R P Q p.1040
. . . . . . g.39089
GGCTGGTGTCTAAGTGACACTTACCTGAAATGCGCTATGAATGCACGAGAGGAAAATCCT c.3180
G W C L S D T Y L K C A M N A R E E N P p.1060
. . . . . | 24 . g.40076
TGGGTTCCAGATGACACCTACTATTGCAGATTGATTGGCAGACTAGTCGATA | CGATGGCT c.3240
W V P D D T Y Y C R L I G R L V D T | M A p.1080
. . . . . . g.40136
GGCAAATCTCCTGGTCCCTTTCCAAACTGTGACTGGAGATTCAATGAGTTTCCCAACCCA c.3300
G K S P G P F P N C D W R F N E F P N P p.1100
. . . . . . g.40196
GCTGCCCATGCTCTCCATGTTACTTGTGTGGAGCTCATGGCCTTGGCAGTTTCAGGCAAA c.3360
A A H A L H V T C V E L M A L A V S G K p.1120
. . . | 25 . . g.40801
GAAGTTGGGAATGCCCTTCTAAATGTTGTCCTAAAAAG | TCAGCCTTTAGTGCCAAGAGAG c.3420
E V G N A L L N V V L K S | Q P L V P R E p.1140
. . . . . | 26 . g.41721
AACATTACAGCATGGATGAATGCAATTGGTTTGATCATCACTGCCCTACCA | GAGCCATAT c.3480
N I T A W M N A I G L I I T A L P | E P Y p.1160
. . . . . . g.41781
TGGATTGTTCTTCATGATCGAATTGTGAGTGTCATCAGCAGCCCCAGCTTGACGTCTGAA c.3540
W I V L H D R I V S V I S S P S L T S E p.1180
. . . . . . g.41841
ACAGAGTGGGTTGGCTATCCATTCCGCCTCTTTGATTTCACTGCCTGTCATCAGTCCTAC c.3600
T E W V G Y P F R L F D F T A C H Q S Y p.1200
. . . . . . g.41901
TCTGAGATGAGTTGTAGCTATACGTTAGCTCTTGCACATGCTGTGTGGCACCATTCTAGC c.3660
S E M S C S Y T L A L A H A V W H H S S p.1220
. . | 27 . . . . g.42831
ATCGGACAACTTTCTCTCATTCCAAA | GTTTCTTACTGAAGTACTTCTTCCTATAGTGAAG c.3720
I G Q L S L I P K | F L T E V L L P I V K p.1240
. . . . . . g.42891
ACCGAATTCCAGTTGCTTTATGTATACCATCTTGTTGGACCATTTTTACAAAGATTTCAG c.3780
T E F Q L L Y V Y H L V G P F L Q R F Q p.1260
. . | 28. . . . g.43676
CAAGAGAGAACTCGTTGTATGATAGAG | ATTGGTGTGGCGTTTTATGACATGCTGCTGAAT c.3840
Q E R T R C M I E | I G V A F Y D M L L N p.1280
. . . . . . g.43736
GTTGACCAGTGTAGCACCCATTTAAATTACATGGATCCCATCTGTGACTTCCTCTATCAC c.3900
V D Q C S T H L N Y M D P I C D F L Y H p.1300
. . . | 29 . . g.45414
ATGAAGTATATGTTTACTGGTGACAGCGTGAAAGAGCAA | GTAGAGAAGATTATCTGTAAC c.3960
M K Y M F T G D S V K E Q | V E K I I C N p.1320
. . . . . . g.45474
TTAAAACCAGCTTTAAAACTTCGTCTTCGATTCATCACACACATTAGCAAGATGGAGCCA c.4020
L K P A L K L R L R F I T H I S K M E P p.1340
. . . . . . g.45534
GCTGCAGTGCCTCCACAAGCCATGAACAGTGGGTCTCCAGCACCTCAGTCTAATCAGGTG c.4080
A A V P P Q A M N S G S P A P Q S N Q V p.1360
. . g.45561
CCCGTGTCTTTACCAGTAACTCAGTGA c.4107
P V S L P V T Q X p.1368
. . . . . . g.45621
agccagactgtactgtggagaaagtagaaatatatccgtctttgagagtggactcaaacc c.*60
. . . . . . g.45681
ttttaaatctgaatgcgatcacactgtagtgatatagtagaagcagtgatgatattcaga c.*120
. . . . . . g.45741
ttgttttattttgattcaaatgatgaatctgttgacaccttataactcccatctccctat c.*180
. . . . . . g.45801
ctatatttttgtctctaagagatcaagtaagatacatgttgttcatattcataacaactt c.*240
. . . . . . g.45861
attagagctatgtaggaacatagaggtatctgtgatcaaatgacttgtcattggcacttt c.*300
. . . . . . g.45921
cagtctttcctattctagccgttgtttttgtttgtattttttattattaatgacatattt c.*360
. . . . . . g.45981
agtcttcagatatattattttaaaggcaccacacatgtaaaacagttattacaaatattt c.*420
. . . . . . g.46041
tatacataaatctcttggtagattttcagaataatagagatttatatcaagaaaaggaat c.*480
. . . . . . g.46101
ctagattttgttgcattgtaggagcaaacaaggcttcatattctttttaaaatgacttga c.*540
. . . . . . g.46161
aattttattataaatttccatagtttctatcaaggtcaactggcagttttattacctttg c.*600
. . . . . . g.46221
ctatggacttgaacttactgtataaaattagttggaagccatgtaagaaaataacatctg c.*660
. . . . . . g.46281
aaaattcttgaacttaaaatcatgcttaaatggttgattctccaatttctttttttaaaa c.*720
. . . . . . g.46341
ataagttaattgcttttgcaggttgacactctcacctgacagatgatgtaattcttcaat c.*780
. . . . . . g.46401
ttttataatcttaaaatttttaaattttatatttgtaaatacagtacacattttatttct c.*840
. . . . . . g.46461
tggattttgagagacattgttaattttgggggaattggcattgcgaaagacttgaaaact c.*900
. . . . g.46502
aatgagtaaagtctgctgaatgaataaaccgtgtgattgtt c.*941
(downstream sequence)
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