(used for variant description)
(last modified December 22, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_015979.3 in the MED23 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031860.1, covering MED23 transcript NM_015979.3.
(upstream sequence)
. g.4994
ttccgtacag c.-181
. . . . . . g.5054
gttcctgctgttggctgggctcgggagggaacgctccaggtaaagcgctgggggaggaag c.-121
. . . . . . g.5114
cgacgccgaggagctacggtttcctccagaggtctccgcccctctgcccctatattccca c.-61
. . . . . . g.5174
gagctcgagtctgatccgggccttgccgggcaccctggaaaggcgggggtgatagtacag c.-1
. . . | 02 . . g.5572
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.5789
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.8255
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.8315
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.9777
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.9837
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.11268
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.11328
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.12539
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.13330
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.13390
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.14757
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.14817
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.17281
| 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 . . | 12 . g.22983
GATATGGTCTGCAATATGCTAGGTTTAAATAAGCAG | ACCTTGAACATTGCTCAG | CACAAG c.900
D M V C N M L G L N K Q | T L N I A Q | H K p.300
. . . . . . g.23043
CAGCGCTGCCCTGTGCTGGAGGACCAGTTGGTGGATCTGGTTGTTTATGCCATGGAGCGA c.960
Q R C P V L E D Q L V D L V V Y A M E R p.320
. . . . . . g.23103
TCTGAGACCGAGGAGAAGTTTGACGATGGGGGAACAAGCCAACTCCTGTGGCAGCATCTC c.1020
S E T E E K F D D G G T S Q L L W Q H L p.340
. . . . . . g.23163
TCAAGTCAGCTCATTTTCTTTGTGCTTTTCCAGTTTGCAAGTTTTCCACATATGGTGCTT c.1080
S S Q L I F F V L F Q F A S F P H M V L p.360
. | 13 . . . . . g.25197
TCTCTTCATCAGAAG | TTAGCAGGGCGAGGACTGATTAAAGGCAGAGATCATCTTATGTGG c.1140
S L H Q K | L A G R G L I K G R D H L M W p.380
. . . . . . g.25257
GTTCTCCTGCAATTCATTTCTGGAAGTATTCAGAAAAATGCACTAGCTGATTTTCTCCCT c.1200
V L L Q F I S G S I Q K N A L A D F L P p.400
. . . | 14 . . g.26620
GTGATGAAGCTCTTCGACTTGCTATACCCAGAAAAAGAA | TATATCCCAGTTCCTGATATT c.1260
V M K L F D L L Y P E K E | Y I P V P D I p.420
. . . . . . g.26680
AACAAACCCCAGTCAACCCATGCCTTTGCAATGACCTGTATTTGGATTCATCTCAATAGA c.1320
N K P Q S T H A F A M T C I W I H L N R p.440
. . . . . . g.26740
AAAGCTCAAAATGACAACTCCAAGCTACAGATTCCAATACCTCATTCCCTAAGACTTCAC c.1380
K A Q N D N S K L Q I P I P H S L R L H p.460
| 15 . . . . . . g.27793
CATGA | GTTCCTGCAGCAGAGTCTAAGAAATAAAAGTTTACAGATGAATGACTATAAGATT c.1440
H E | F L Q Q S L R N K S L Q M N D Y K I p.480
. . . . . . g.27853
GCTCTATTGTGTAATGCATACTCTACAAATTCAGAATGTTTTACATTACCCATGGGAGCT c.1500
A L L C N A Y S T N S E C F T L P M G A p.500
. . . . . . g.27913
CTGGTAGAAACTATTTATGGAAATGGAATTATGAGGATACCTCTCCCTGGAACAAACTGT c.1560
L V E T I Y G N G I M R I P L P G T N C p.520
. . . . . . g.27973
ATGGCTTCAGGATCTATTACCCCCTTACCTATGAACCTCCTGGATTCACTGACAGTTCAT c.1620
M A S G S I T P L P M N L L D S L T V H p.540
. | 16 . . . . . g.28952
GCCAAAATGAG | CCTTATTCACAGCATTGCAACCAGGGTGATAAAACTTGCTCATGCAAAG c.1680
A K M S | L I H S I A T R V I K L A H A K p.560
. . . . . . g.29012
TCCAGTGTGGCCTTGGCTCCAGCCCTAGTGGAAACTTACAGTCGTTTATTGGTCTATATG c.1740
S S V A L A P A L V E T Y S R L L V Y M p.580
. . . | 17 . . . g.30045
GAAATAGAGTCTTTGGGCATCAAAGGATTTATCA | GTCAGCTTTTGCCAACTGTTTTCAAA c.1800
E I E S L G I K G F I S | Q L L P T V F K p.600
. . . . . . g.30105
TCACATGCATGGGGGATCTTACACACACTCCTTGAGATGTTTAGCTACCGGATGCATCAT c.1860
S H A W G I L H T L L E M F S Y R M H H p.620
. . . . . . g.30165
ATTCAGCCTCATTACAGAGTTCAGCTCCTGAGTCATCTTCATACTTTGGCTGCAGTTGCA c.1920
I Q P H Y R V Q L L S H L H T L A A V A p.640
. . | 18 . . . g.30873
CAAACAAACCAGAACCAGCTCCATCTTTG | TGTCGAGAGCACTGCTCTCAGGCTTATAACA c.1980
Q T N Q N Q L H L C | V E S T A L R L I T p.660
. . . . . . g.30933
GCATTAGGTAGCTCAGAGGTACAACCGCAGTTTACACGCTTCCTTAGTGATCCCAAAACA c.2040
A L G S S E V Q P Q F T R F L S D P K T p.680
. . . . . . g.30993
GTGCTCTCAGCAGAATCTGAAGAACTGAACCGAGCCTTGATATTGACCTTGGCTAGAGCA c.2100
V L S A E S E E L N R A L I L T L A R A p.700
. | 19 . . . . . g.33108
ACTCATGTAACAG | ATTTTTTTACAGGCTCTGATTCAATTCAGGGAACTTGGTGTAAAGAC c.2160
T H V T D | F F T G S D S I Q G T W C K D p.720
. . . . . . g.33168
ATACTTCAGACCATCATGAGTTTCACTCCTCATAATTGGGCTTCACACACCCTGAGCTGT c.2220
I L Q T I M S F T P H N W A S H T L S C p.740
. | 20 . . . . g.34504
TTTCCAGGCCCACTACAG | GCATTCTTCAAACAAAATAATGTGCCTCAGGAAAGCCGTTTT c.2280
F P G P L Q | A F F K Q N N V P Q E S R F p.760
. . . . . . g.34564
AATCTGAAAAAAAATGTGGAGGAGGAGTATAGGAAGTGGAAGTCAATGAGCAACGAAAAC c.2340
N L K K N V E E E Y R K W K S M S N E N p.780
. . . . . . g.34624
GACATTATTACCCACTTCTCTATGCAGGGCTCCCCTCCTCTCTTTCTTTGTCTTCTCTGG c.2400
D I I T H F S M Q G S P P L F L C L L W p.800
. . . . | 21 . . g.34772
AAAATGCTCTTGGAAACAGATCATATTAATCAGATTGGCTATAG | AGTATTAGAGAGAATT c.2460
K M L L E T D H I N Q I G Y R | V L E R I p.820
. . . . . . g.34832
GGAGCCAGGGCCTTGGTAGCCCATGTGAGGACATTTGCAGATTTCCTGGTATATGAGTTT c.2520
G A R A L V A H V R T F A D F L V Y E F p.840
. . . . . . g.34892
TCTACATCAGCAGGGGGTCAGCAACTCAATAAATGCATTGAAATTCTTAATGACATGGTA c.2580
S T S A G G Q Q L N K C I E I L N D M V p.860
. . . . | 22 . . g.36550
TGGAAGTATAACATTGTTACACTGGACAGATTAATTCTCTGCCTG | GCCATGCGTAGTCAC c.2640
W K Y N I V T L D R L I L C L | A M R S H p.880
. . . . . . g.36610
GAAGGAAATGAAGCCCAGGTTTGTTATTTCATAATTCAGTTGCTGTTACTCAAACCAAAC c.2700
E G N E A Q V C Y F I I Q L L L L K P N p.900
. . . . . . g.36670
GATTTTAGAAATCGAGTAAGTGACTTTGTGAAGGAAAATTCCCCAGAGCACTGGTTACAG c.2760
D F R N R V S D F V K E N S P E H W L Q p.920
. . . | 23 . . . g.37084
AATGACTGGCACACCAAGCACATGAATTATCACAAG | AAATATCCAGAGAAGTTGTATTTT c.2820
N D W H T K H M N Y H K | K Y P E K L Y F p.940
. . . . . . g.37144
GAGGGCCTCGCGGAACAGGTGGATCCTCCTGTACAGATCCAGTCTCCCTATCTGCCCATC c.2880
E G L A E Q V D P P V Q I Q S P Y L P I p.960
. . . . . . g.37204
TATTTTGGGAATGTGTGTCTTCGATTCCTTCCAGTATTTGATATAGTAATCCACAGATTT c.2940
Y F G N V C L R F L P V F D I V I H R F p.980
. . . . . . g.37264
TTAGAGTTGCTTCCGGTATCCAAATCACTGGAGACTCTACTGGATCATCTAGGAGGCTTA c.3000
L E L L P V S K S L E T L L D H L G G L p.1000
. | 24 . . . . . g.38935
TATAAATTTCATG | ATCGTCCAGTGACTTATCTGTATAACACTCTGCACTATTATGAAATG c.3060
Y K F H D | R P V T Y L Y N T L H Y Y E M p.1020
. . . . . . g.38995
CACCTGAGAGACCGCGCATTTCTCAAACGAAAACTCGTCCATGCGATCATTGGCTCTCTG c.3120
H L R D R A F L K R K L V H A I I G S L p.1040
. . . . . . g.39055
AAGGATAATCGACCGCAGGGCTGGTGTCTAAGTGACACTTACCTGAAATGCGCTATGAAT c.3180
K D N R P Q G W C L S D T Y L K C A M N p.1060
. . . . . . g.39115
GCACGAGAGGAAAATCCTTGGGTTCCAGATGACACCTACTATTGCAGATTGATTGGCAGA c.3240
A R E E N P W V P D D T Y Y C R L I G R p.1080
. | 25 . . . . . g.40102
CTAGTCGATA | CGATGGCTGGCAAATCTCCTGGTCCCTTTCCAAACTGTGACTGGAGATTC c.3300
L V D T | M A G K S P G P F P N C D W R F p.1100
. . . . . . g.40162
AATGAGTTTCCCAACCCAGCTGCCCATGCTCTCCATGTTACTTGTGTGGAGCTCATGGCC c.3360
N E F P N P A A H A L H V T C V E L M A p.1120
. . . . . | 26 . g.40767
TTGGCAGTTTCAGGCAAAGAAGTTGGGAATGCCCTTCTAAATGTTGTCCTAAAAAG | TCAG c.3420
L A V S G K E V G N A L L N V V L K S | Q p.1140
. . . . . . g.40827
CCTTTAGTGCCAAGAGAGAACATTACAGCATGGATGAATGCAATTGGTTTGATCATCACT c.3480
P L V P R E N I T A W M N A I G L I I T p.1160
| 27 . . . . . g.41747
GCCCTACCA | GAGCCATATTGGATTGTTCTTCATGATCGAATTGTGAGTGTCATCAGCAGC c.3540
A L P | E P Y W I V L H D R I V S V I S S p.1180
. . . . . . g.41807
CCCAGCTTGACGTCTGAAACAGAGTGGGTTGGCTATCCATTCCGCCTCTTTGATTTCACT c.3600
P S L T S E T E W V G Y P F R L F D F T p.1200
. . . . . . g.41867
GCCTGTCATCAGTCCTACTCTGAGATGAGTTGTAGCTATACGTTAGCTCTTGCACATGCT c.3660
A C H Q S Y S E M S C S Y T L A L A H A p.1220
. . . . | 28 . . g.42797
GTGTGGCACCATTCTAGCATCGGACAACTTTCTCTCATTCCAAA | GTTTCTTACTGAAGTA c.3720
V W H H S S I G Q L S L I P K | F L T E V p.1240
. . . . . . g.42857
CTTCTTCCTATAGTGAAGACCGAATTCCAGTTGCTTTATGTATACCATCTTGTTGGACCA c.3780
L L P I V K T E F Q L L Y V Y H L V G P p.1260
. . . . | 29 . . g.43642
TTTTTACAAAGATTTCAGCAAGAGAGAACTCGTTGTATGATAGAG | ATTGGTGTGGCGTTT c.3840
F L Q R F Q Q E R T R C M I E | I G V A F p.1280
. . . . . . g.43702
TATGACATGCTGCTGAATGTTGACCAGTGTAGCACCCATTTAAATTACATGGATCCCATC c.3900
Y D M L L N V D Q C S T H L N Y M D P I p.1300
. . . . . | 30. g.45380
TGTGACTTCCTCTATCACATGAAGTATATGTTTACTGGTGACAGCGTGAAAGAGCAA | GTA c.3960
C D F L Y H M K Y M F T G D S V K E Q | V p.1320
. . . . . . g.45440
GAGAAGATTATCTGTAACTTAAAACCAGCTTTAAAACTTCGTCTTCGATTCATCACACAC c.4020
E K I I C N L K P A L K L R L R F I T H p.1340
. . . . . . g.45500
ATTAGCAAGATGGAGCCAGCTGCAGTGCCTCCACAAGCCATGAACAGTGGGTCTCCAGCA c.4080
I S K M E P A A V P P Q A M N S G S P A p.1360
. | 31 g.58973
CCTCAGTCTAATCAG | TAA c.4098
P Q S N Q | X p.1365
. . . . . . g.59033
aaagtcagagtacacagcaagggttccaaattaagaggaagcaaaacgctgcccagatcc c.*60
. . . . . . g.59093
tgagaaacctggagaaaatcaaccttagtagtttcaactcatacattgtcttgtttgatt c.*120
. . . . . . g.59153
ttgttctttgttttttatcctctttaagcacagatgcgtgttgaagtctaaggtgttctg c.*180
. . . . . . g.59213
tcatcacactctctttactagaataagtgtgcccaggcagaaaaaaaagtgtattcaatg c.*240
. . . . . . g.59273
ttgctggcatgtgtggattcacagctcgtggctgtaaggaaatctgggggtttcataaat c.*300
. . g.59300
ccattaaaatccttttagagttgccaa c.*327
(downstream sequence)
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