(used for variant description)
(last modified January 17, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000829.3 in the GRIA4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering GRIA4 transcript NM_000829.3.
(upstream sequence)
. . g.5026
agtggcagaagagggctaggctgaga c.-421
. . . . . . g.5086
gggaagccaggactgtaggagagggaggcagcccgtcctcctcacgaacctgcaaggatg c.-361
. . . . . . g.5146
cggcaggggcctgggggcatggggaggtactaaccccccggagcccccgattggggcttg c.-301
. . . . . . g.5206
cagacctggcccgtgggcggattttctgcctagcgcagccgagaagcagaggtgccagga c.-241
. . . . . . g.5266
aaaccaagagaggggcgctgggggtgcccatccccagagtcggtccctctgcgaaccgag c.-181
. . . . . . g.5326
gaagaaaagaggagggagtcagcgagtggtcagaagggaaaacctgacaccagactggct c.-121
. . . | 02 . . g.5865
ccggagcgtccgggagactggggcgctccg | cgccatcgtcttcaatgcttctctgaacag c.-61
. . . . . . g.5925
cctttaggaagagtgcgagagaaagagagagagcgcgcgccagggagaggagaaaagaag c.-1
. . . . . . g.5985
ATGAGGATTATTTCCAGACAGATTGTCTTGTTATTTTCTGGATTTTGGGGACTCGCCATG c.60
M R I I S R Q I V L L F S G F W G L A M p.20
. . | 03 . . . g.7235
GGAGCCTTTCCGAGCAGCGTGCAAATAG | GTGGTCTCTTCATCCGAAACACAGATCAGGAA c.120
G A F P S S V Q I G | G L F I R N T D Q E p.40
. . . . . . g.7295
TACACTGCTTTTCGATTAGCAATTTTTCTTCATAACACCAGCCCCAATGCGTCGGAAGCT c.180
Y T A F R L A I F L H N T S P N A S E A p.60
. . . . . . g.7355
CCTTTTAATTTGGTACCTCATGTGGACAACATTGAGACAGCCAACAGTTTTGCTGTAACA c.240
P F N L V P H V D N I E T A N S F A V T p.80
| 04. . . . . . g.147960
AACGCCT | TCTGTTCCCAGTATTCTAGAGGAGTATTTGCCATTTTTGGACTCTATGATAAG c.300
N A F | C S Q Y S R G V F A I F G L Y D K p.100
. . . . . . g.148020
AGGTCGGTACATACCTTGACCTCATTCTGCAGCGCCTTACATATCTCCCTCATCACACCA c.360
R S V H T L T S F C S A L H I S L I T P p.120
. . . . . . g.148080
AGTTTCCCTACTGAGGGGGAGAGCCAGTTTGTGCTGCAACTAAGACCTTCGTTACGAGGA c.420
S F P T E G E S Q F V L Q L R P S L R G p.140
. . . . . . g.148140
GCACTCTTGAGTTTGCTGGATCACTACGAATGGAACTGTTTTGTCTTCCTGTATGACACA c.480
A L L S L L D H Y E W N C F V F L Y D T p.160
| 05. . . . . . g.257003
GACAGGG | GATACTCGATACTCCAAGCTATTATGGAAAAAGCAGGACAAAATGGTTGGCAT c.540
D R G | Y S I L Q A I M E K A G Q N G W H p.180
. . . . . . g.257063
GTCAGCGCTATATGTGTGGAAAATTTTAATGATGTCAGCTATAGGCAACTTCTAGAAGAA c.600
V S A I C V E N F N D V S Y R Q L L E E p.200
. . . . . . g.257123
CTTGACAGAAGACAAGAGAAGAAGTTTGTAATAGACTGTGAGATAGAGAGACTTCAAAAC c.660
L D R R Q E K K F V I D C E I E R L Q N p.220
. | 06 . . . . . g.282493
ATATTAGAACAG | ATTGTAAGTGTTGGAAAGCATGTTAAAGGCTACCATTATATCATTGCA c.720
I L E Q | I V S V G K H V K G Y H Y I I A p.240
| 07 . . . . . . g.293249
AACTTG | GGATTCAAGGATATTTCTCTTGAGAGGTTTATACATGGTGGAGCCAATGTTACT c.780
N L | G F K D I S L E R F I H G G A N V T p.260
. . . . . . g.293309
GGATTCCAGTTGGTGGATTTTAATACACCTATGGTAATCAAACTAATGGATCGCTGGAAG c.840
G F Q L V D F N T P M V I K L M D R W K p.280
. . . . | 08 . . g.298755
AAACTAGATCAGAGAGAGTATCCAGGATCTGAGACTCCTCCAAAG | TACACCTCTGCTCTG c.900
K L D Q R E Y P G S E T P P K | Y T S A L p.300
. . . . . . g.298815
ACTTATGATGGAGTCCTTGTGATGGCTGAAACTTTCCGAAGTCTTAGGAGGCAGAAAATT c.960
T Y D G V L V M A E T F R S L R R Q K I p.320
. . . . . . g.298875
GATATCTCAAGGAGAGGAAATGCTGGGGATTGTCTGGCAAATCCTGCTGCTCCATGGGGC c.1020
D I S R R G N A G D C L A N P A A P W G p.340
. . . | 09 . . . g.300150
CAGGGAATTGACATGGAGAGGACACTCAAACAG | GTTCGAATTCAAGGGCTGACAGGGAAT c.1080
Q G I D M E R T L K Q | V R I Q G L T G N p.360
. . . . . . g.300210
GTTCAGTTTGACCACTATGGACGTAGAGTCAATTACACAATGGATGTGTTTGAGCTGAAA c.1140
V Q F D H Y G R R V N Y T M D V F E L K p.380
. | 10 . . . . g.305403
AGCACAGGACCTAGAAAG | GTTGGTTACTGGAATGATATGGATAAGTTAGTCTTGATTCAA c.1200
S T G P R K | V G Y W N D M D K L V L I Q p.400
. . . . . . g.305463
GATGTACCAACTCTTGGCAATGACACAGCTGCTATTGAGAACAGAACAGTGGTTGTAACC c.1260
D V P T L G N D T A A I E N R T V V V T p.420
| 11 . . . . . g.313689
ACAATTATG | GAATCCCCATATGTTATGTACAAGAAAAATCATGAAATGTTTGAAGGAAAT c.1320
T I M | E S P Y V M Y K K N H E M F E G N p.440
. . . . . . g.313749
GACAAGTATGAAGGATACTGTGTAGATTTGGCATCTGAAATTGCAAAACATATTGGTATC c.1380
D K Y E G Y C V D L A S E I A K H I G I p.460
. . . . . . g.313809
AAGTATAAAATTGCCATTGTCCCTGATGGAAAATATGGAGCAAGGGATGCAGACACAAAA c.1440
K Y K I A I V P D G K Y G A R D A D T K p.480
. . . | 12 . . . g.319349
ATCTGGAATGGGATGGTAGGAGAACTTGTTTATGGG | AAAGCAGAGATTGCTATTGCCCCT c.1500
I W N G M V G E L V Y G | K A E I A I A P p.500
. . . . . . g.319409
CTGACAATCACTTTGGTACGAGAGGAGGTCATTGACTTTTCTAAGCCCTTCATGAGTTTG c.1560
L T I T L V R E E V I D F S K P F M S L p.520
. . . . . . g.319469
GGCATATCTATCATGATCAAAAAGCCTCAGAAATCCAAACCAGGAGTGTTTTCCTTCTTG c.1620
G I S I M I K K P Q K S K P G V F S F L p.540
. . . . . . g.319529
GATCCTCTGGCCTATGAGATTTGGATGTGCATAGTCTTTGCCTACATTGGTGTCAGCGTG c.1680
D P L A Y E I W M C I V F A Y I G V S V p.560
. . . . . . g.319589
GTCTTATTCCTAGTTAGTAGATTTAGTCCATATGAGTGGCACACAGAAGAGCCAGAGGAC c.1740
V L F L V S R F S P Y E W H T E E P E D p.580
. . . . . . g.319649
GGAAAGGAAGGACCCAGCGACCAGCCTCCCAATGAGTTTGGCATCTTTAACAGCCTCTGG c.1800
G K E G P S D Q P P N E F G I F N S L W p.600
. . . . | 13. . g.321680
TTTTCCCTGGGTGCTTTTATGCAGCAAGGATGTGACATTTCACCCAG | ATCCCTCTCAGGT c.1860
F S L G A F M Q Q G C D I S P R | S L S G p.620
. . . . . . g.321740
CGAATTGTTGGAGGTGTTTGGTGGTTCTTTACACTCATCATTATATCATCTTATACTGCT c.1920
R I V G G V W W F F T L I I I S S Y T A p.640
. . . . . . g.321800
AACCTCGCTGCTTTCCTGACGGTTGAGCGAATGGTCTCTCCCATAGAAAGTGCAGAAGAC c.1980
N L A A F L T V E R M V S P I E S A E D p.660
. . . . . . g.321860
CTGGCCAAACAAACAGAAATTGCCTATGGAACACTGGATTCAGGATCAACAAAAGAATTC c.2040
L A K Q T E I A Y G T L D S G S T K E F p.680
| 14 . . . . . . g.328702
TTCAGA | AGATCAAAAATAGCAGTGTATGAAAAGATGTGGACCTACATGCGATCAGCAGAG c.2100
F R | R S K I A V Y E K M W T Y M R S A E p.700
. . . . . . g.328762
CCATCAGTATTCACTAGGACTACAGCTGAGGGAGTAGCTCGTGTCCGCAAATCCAAGGGC c.2160
P S V F T R T T A E G V A R V R K S K G p.720
. . . . . . g.328822
AAATTTGCCTTTCTCCTGGAGTCCACTATGAATGAATACATTGAGCAGCGAAAGCCATGT c.2220
K F A F L L E S T M N E Y I E Q R K P C p.740
. . . . . . g.328882
GACACGATGAAAGTGGGAGGAAATCTGGATTCCAAAGGCTATGGAGTAGCAACGCCCAAG c.2280
D T M K V G G N L D S K G Y G V A T P K p.760
. | 15 . . . . . g.366887
GGTTCCTCATTAAG | AACTCCTGTAAACCTTGCCGTTTTGAAACTCAGTGAGGCAGGCGTC c.2340
G S S L R | T P V N L A V L K L S E A G V p.780
. . . . . . g.366947
TTAGACAAGCTGAAAAACAAATGGTGGTACGATAAAGGTGAATGTGGACCCAAGGACTCT c.2400
L D K L K N K W W Y D K G E C G P K D S p.800
| 16 . . . . . g.369288
GGAAGCAAG | GACAAGACGAGTGCCTTGAGCCTGAGCAATGTAGCAGGCGTCTTCTACATT c.2460
G S K | D K T S A L S L S N V A G V F Y I p.820
. . . . . . g.369348
CTGGTTGGCGGCTTGGGCTTGGCAATGCTGGTGGCTTTGATAGAGTTCTGTTACAAGTCC c.2520
L V G G L G L A M L V A L I E F C Y K S p.840
. . | 17 . . . . g.374538
AGGGCAGAAGCGAAGAGAATGAAG | CTGACCTTTTCTGAAGCCATAAGAAACAAAGCCAGA c.2580
R A E A K R M K | L T F S E A I R N K A R p.860
. . . . . . g.374598
TTATCCATCACTGGGAGTGTGGGAGAGAATGGCCGCGTCTTGACGCCTGACTGCCCAAAG c.2640
L S I T G S V G E N G R V L T P D C P K p.880
. . . . . . g.374658
GCTGTACACACTGGAACTGCAATCAGACAAAGTTCAGGATTGGCTGTCATTGCATCGGAC c.2700
A V H T G T A I R Q S S G L A V I A S D p.900
g.374667
CTACCATAA c.2709
L P X p.902
. . . . . . g.374727
aaaccaaaaaaataattgagtgccttaattaaactgttggtgactggtggaaacgcagcc c.*60
. . . . . . g.374787
ctgagggacacgccacgcgcgggtctttgctaaaccaatcctttggctgagagcgggaag c.*120
. . . . . . g.374847
tccgtcctaacgcgctggccggacatcagcagcagcaacgtgtgcatgagctcagctcgg c.*180
. . . . . . g.374907
aaacccaaactcagattttatatcaggaaaactcacaattgaggtttttttcggggagtg c.*240
. . . . . . g.374967
ggtgggggagggatctgggatgggtgtattaacagcaacaaatttcattcgagtggactc c.*300
. . . . . . g.375027
aaaaactaatcagacttatgagttagcgcattaaactgtgaagttcttgctcagaaaggc c.*360
. . . . . . g.375087
ctttgtcttcaccggaaaggataaaatagttgtagaagtccgtgaacatgctaacctgtg c.*420
. . . . . . g.375147
tctccagaacatccatatagtccatggaagaaaatccagctgagaaaacaaatcactaaa c.*480
. . . . . . g.375207
ctgtgataagaaaataatgaacaaacatgtaaaacctgtgggaaaaaaaaataaaggaag c.*540
. . . . . . g.375267
tatgtacacttactttggagaaaacaaatactgaaacatgcttgctttttaactgacgta c.*600
. . . . . . g.375327
aattcagtagaggacaacacaattcttttttctaaccatcttagggaacaatacattgca c.*660
. . . . . . g.375387
ataattgatataaatgccatcactgtaataaactttagagacttttttttataaaagttg c.*720
. . . . . . g.375447
ttggtcatcttcttgtttgctgtaaccttcactatgtcacatgagtcgattcaccgattg c.*780
. . . . . . g.375507
catttgtctcacaaccaggaagaaaagcaaaaggaagaaaacgtttaggttcaatcatca c.*840
. . . . . . g.375567
gtctgcggtgtagactcgaaagagatgacaggtcactcatgttaatggtattatttataa c.*900
. . . . . . g.375627
tctcattctgtgtacaacattgtggtttttgtacccaccaaaaagaataaaacagcagat c.*960
. . . . . . g.375687
gttcttacaatatctacagagcttaaaagttttttcttatcgttataaaagttatttgag c.*1020
. . . . . . g.375747
aaattataagactataagagagattgtattagtggtgggccatagtggaaaatgtagcta c.*1080
. . . . . . g.375807
gccctcattattttttgcatactaagctacccctccttttcagatctttgactcattaac c.*1140
. . . . . . g.375867
agattaaactgtcaaagatggagtctttgagttggggaatgaatcactgtcctaacaaca c.*1200
. . . . . . g.375927
acataccttgtaattgtgtgttgaaattttacttgactgtattttgctgcataaaattat c.*1260
. . . . . . g.375987
gtgtctcttgggcttcttcccttattcctattgttccctttaaatcatatgaaggcattc c.*1320
. . . . . . g.376047
ataatagcttggggtagataacaaatgaagaattagtctttgttttcaactggaaattgt c.*1380
. . . . . . g.376107
aaagaaaattatactcatgtttatttataaaaatcaccttatgtatgaattaaactaaca c.*1440
. . . . . . g.376167
tggttcaaaagaaggtttggttcatttgaaataataaataagtactctaatacagataaa c.*1500
. . . . . . g.376227
aatcatgtacttagggtattggcagaaagcacaagttaggatgatttcagaagtctggcc c.*1560
. . . . . . g.376287
ttgaaggatgagttgagttttaacaggaggagaaggtgttaagagccatatgagtgagca c.*1620
. . . . . . g.376347
gtggcccaaagccatgcacatcagtggctcatttaaggaatgaatgccattagatgggct c.*1680
. . . . . . g.376407
actgagagtacagggatattatggaagataaagttggaaaagctgaaggattgattttct c.*1740
. . . . . . g.376467
tccatcaactctcaagatcccattcgccattcaatctctgtgctgcagtaagagcaatct c.*1800
. . . . . . g.376527
taaacagtataaatcacacacacacacacacacacacacacacacacacacaagtccctc c.*1860
. . . . . . g.376587
aggaaaaattccaagctcttgagaagatcacatgagccccttcatgacctggcgcttgct c.*1920
. . . . . . g.376647
tatttcttccaggacttctctcacttctatccagctattcccgtcagcaaatgaacctcc c.*1980
. . . . . . g.376707
aaagcagcacatggagcactgcatagactatttcctcagtgcgtaactcctccctgtctc c.*2040
. . . . . . g.376767
ctctttacctgagtaacttgtactcatccttcaatactccaactgaattttacttaccct c.*2100
. . . . . . g.376827
gaaaagatttccatggctatccaccacccccctgcctgtgagactgagttaggtgccctt c.*2160
. . . . . . g.376887
tttcatgtctttcccccatcacggcacttaccatactgcgttgtaattgcctgtgtactc c.*2220
. . . . . . g.376947
gtctgtataactactagactgtaagctccttgagggcagggactgtgtctatcttgttca c.*2280
. . . . . . g.377007
cagttgtatccccagcacccagcacagtgcctggcatattgtaggtgcttaataaatatt c.*2340
. g.377020
tgttgaatgaatg c.*2353
(downstream sequence)
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