(used for variant description)
(last modified October 20, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_016194.3 in the GNB5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering GNB5 transcript NM_016194.3.
(upstream sequence)
g.5005
tcacc c.-61
. . . . . | 02 . g.11692
tctcaccatctgctctgtggctcccagtgctgactctggaag | ctttatcttgggtaaaag c.-1
. . . . . . g.11752
ATGTGTGATCAGACCTTTCTCGTTAATGTATTTGGCTCATGTGACAAATGTTTCAAACAA c.60
M C D Q T F L V N V F G S C D K C F K Q p.20
. . . . . . g.11812
CGAGCTCTGAGACCAGTTTTCAAGAAGTCTCAACAACTCAGCTACTGTTCAACATGTGCA c.120
R A L R P V F K K S Q Q L S Y C S T C A p.40
| 03 . . . . . . g.16543
GAAATT | ATGGCAACCGAGGGGCTGCACGAGAACGAGACGCTGGCGTCGCTGAAGAGCGAG c.180
E I | M A T E G L H E N E T L A S L K S E p.60
. . . . . | 04 g.42294
GCCGAGAGCCTCAAGGGCAAGCTGGAGGAGGAGCGAGCCAAGCTGCACGATGTGGAGC | TG c.240
A E S L K G K L E E E R A K L H D V E L | p.80
. . . . . . g.42354
CACCAGGTGGCGGAGCGGGTGGAGGCCCTGGGGCAGTTTGTCATGAAGACCAGAAGGACC c.300
H Q V A E R V E A L G Q F V M K T R R T p.100
. . . . . . g.42414
CTCAAAGGCCACGGGAACAAAGTCCTGTGCATGGACTGGTGCAAAGATAAGAGGAGGATC c.360
L K G H G N K V L C M D W C K D K R R I p.120
. | 05 . . . . | 06. g.48836
GTGAGCTCGTCACAG | GATGGGAAGGTGATCGTGTGGGATTCCTTCACCACAAACAAG | GAG c.420
V S S S Q | D G K V I V W D S F T T N K | E p.140
. . . . . . g.48896
CACGCGGTCACCATGCCCTGCACGTGGGTGATGGCATGTGCTTATGCCCCATCGGGATGT c.480
H A V T M P C T W V M A C A Y A P S G C p.160
. | 07 . . . . . g.55142
GCCATTGCTTGTGG | TGGTTTGGATAATAAGTGTTCTGTGTACCCCTTGACGTTTGACAAA c.540
A I A C G | G L D N K C S V Y P L T F D K p.180
. . . . . . g.55202
AATGAAAACATGGCTGCCAAAAAGAAGTCTGTTGCTATGCACACCAACTACCTGTCGGCC c.600
N E N M A A K K K S V A M H T N Y L S A p.200
. . | 08. . . . g.60645
TGCAGCTTCACCAACTCTGACATGCAG | ATCCTGACAGCGAGCGGCGATGGCACATGTGCC c.660
C S F T N S D M Q | I L T A S G D G T C A p.220
. . . . . . g.60705
CTGTGGGACGTGGAGAGCGGGCAGCTGCTGCAGAGCTTCCACGGACATGGGGCTGACGTC c.720
L W D V E S G Q L L Q S F H G H G A D V p.240
. . . . . | 09 . g.62908
CTCTGCTTGGACCTGGCCCCCTCAGAAACTGGAAACACCTTCGTGTCTGGG | GGATGTGAC c.780
L C L D L A P S E T G N T F V S G | G C D p.260
. . . . . . g.62968
AAGAAAGCCATGGTGTGGGACATGCGCTCCGGCCAGTGCGTGCAGGCCTTTGAAACACAT c.840
K K A M V W D M R S G Q C V Q A F E T H p.280
. . | 10 . . . . g.68161
GAATCTGACATCAACAGTGTCCG | GTACTACCCCAGTGGAGATGCCTTTGCTTCAGGGTCA c.900
E S D I N S V R | Y Y P S G D A F A S G S p.300
. | 11 . . . . . g.70372
GATGACGCTACG | TGTCGCCTCTATGACCTGCGGGCAGATAGGGAGGTTGCCATCTATTCC c.960
D D A T | C R L Y D L R A D R E V A I Y S p.320
. . . . | 12 . g.71740
AAAGAAAGCATCATATTTGGAGCATCCAGCGTGGACTTCTCCCTCAGTG | GTCGCCTGCTG c.1020
K E S I I F G A S S V D F S L S G | R L L p.340
. . . . . . g.71800
TTTGCTGGATACAATGATTACACTATCAACGTCTGGGATGTTCTCAAAGGGTCCCGGGTC c.1080
F A G Y N D Y T I N V W D V L K G S R V p.360
. . . . . . g.71860
TCCATCCTGTTTGGACATGAAAACCGCGTTAGCACTCTACGAGTTTCCCCCGATGGGACT c.1140
S I L F G H E N R V S T L R V S P D G T p.380
. . . | 13 . g.73624
GCTTTCTGCTCTGGATCATGGGATCATACCCTCAGA | GTCTGGGCCTAA c.1188
A F C S G S W D H T L R | V W A X p.395
. . . . . . g.73684
tcatcttctgacagtgcactcatgtatacctgagaatttgaaatcttcacatgtaaatag c.*60
. . . . . . g.73744
atattacttctagaggagcttagagtttattgcagtgtagcttaggggagcaacccatgg c.*120
. . . . . . g.73804
ctcacaggtcactaagcgtctccaatatgactattaaaactgtcacctctggaaatacac c.*180
. . . . . . g.73864
tagtgtgagccttcagcactgcgagaataccttcaagtacagtatttttcttttggaaca c.*240
. . . . . . g.73924
ctttttaaaatgtatctgtttttaaggttattctaaattatagtagcctcaactcattct c.*300
. . . . . . g.73984
gtcaccagtagaattcagcagttaatatattccatattatttctttgaatcaattcattt c.*360
. . . . . . g.74044
tcagagcactttaaagtctgatatttctcgatgtgcactgtgatgcctggaaccttcctc c.*420
. . . . . . g.74104
tggaagtgctgattttatggactgaggactggtgactggtctgtgatagaagcaaattcc c.*480
. . . . . . g.74164
aattccaaatgtaattagacaaaaatcatttttttagaatgtgtttttattgtaaaagta c.*540
. . . . . . g.74224
tctttttcagcttcctgttctattgtcttttttcagatacaacatttttgtctatggtga c.*600
. . . . . . g.74284
actgctgtaaatgacgcagagaaatgcctaaaaaggacaggtggtttgactcatggatga c.*660
. . . . . . g.74344
tgatgatgtcactgtgccacttggacagggcgttttctctgaattgaagggaaagccaat c.*720
. . . . . . g.74404
ggtgtttgtaaacaaatgcttctgagagcaaagaaaagtcttctgtgtgggaacacaaga c.*780
. . . . . . g.74464
tagtaaacttatttaaaaacctattagtagaattagtggaaacacttaggttaaagtgaa c.*840
. . . . . . g.74524
tcttgtccatataaattatattcatggccgggcgcggtggctcacgcttgtaatcccagc c.*900
. . . . . . g.74584
actttgggaggccgaggcgggcggatcacgaggtcaggagttcgagaccacggtgaaacc c.*960
. . . . . . g.74644
ctgtctctactaaaaaatacaaaaaattagccgggcgtggtggcgggcgcctgtagtccc c.*1020
. . . . . . g.74704
agctactcggagaggctgaggcaggagaatggcgtgaacccgggaggtggagcttgcagt c.*1080
. . . . . . g.74764
gagccgaggtcgagccactgcagcctgggtgacaaagcgagactccgtctcaaaaaaaaa c.*1140
. . . . . . g.74824
aaaaaattatattcatatgtattgcattgcaattataattacatatgcagattgattgat c.*1200
. . . . . . g.74884
agtcatgaataataacgtctgctcctcttacatagaaaaacgatattaaaagaagatctt c.*1260
. . . . . . g.74944
ctctttatttgagactcagaattccttctagaagaaggaagtgctttttgttataggatc c.*1320
. . . . . . g.75004
ccttcttttcctttttttgtttttttgtaagatgtagatgcttattctttgctttagaaa c.*1380
. . . . . . g.75064
acttctcacttaaaaagatggcatgcacctaggggaataaaaggtcacctcagacaccag c.*1440
. . . . . . g.75124
gtgtcattcctggtgaggcctgcctcgtcggtggcctggggtctgccggcaggttctggc c.*1500
. . . . . . g.75184
tgcacctgaaggctgcgtgcaccttgtcccctggacaggtctcctttcctggccctgctc c.*1560
. . . . . . g.75244
cagcccagcccttcttctagtggtagctctggctttgcaggcccagctccaggccctgct c.*1620
. . . . . . g.75304
cctcagagagactcttccagagctggagctgggcacagccataagacaggactggaccag c.*1680
. . . . . . g.75364
atgctcctgtaaacatccaggggtgtgccaggcccaccctcacaactgcttgttcaggta c.*1740
. . . . . . g.75424
tcgtgatgggccactcggtccaaaatcagccaggccatcttttccatcatctcacttcaa c.*1800
. . . g.75455
ataaacataataattatatttgatcatttgc c.*1831
(downstream sequence)
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