Canonical Allele Identifier: CA2412482
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063401
ClinVar RCV Id: RCV001373234
dbSNP Id: rs767935708
ExAC: 3:50230759 G / T
gnomAD v2: 3-50230759-G-T
gnomAD v4: 3-50193326-G-T
MyVariant Identifiers: chr3:g.50230759G>T (hg19) chr3:g.50193326G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193326G>T , CM000665.2:g.50193326G>T GRCh38
NC_000003.11:g.50230759G>T , CM000665.1:g.50230759G>T GRCh37
NC_000003.10:g.50205763G>T NCBI36
NG_009831.1:g.6717G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.211G>T MANE Select ENSP00000232461.3:p.Gly71Cys
ENST00000232461.7:c.211G>T ENSP00000232461.3:p.Gly71Cys
ENST00000433068.5:c.211G>T ENSP00000387555.1:p.Gly71Cys
ENST00000440836.1:c.67G>T ENSP00000403537.1:p.Gly23Cys
NM_000172.3:c.211G>T NP_000163.2:p.Gly71Cys
NM_144499.2:c.211G>T NP_653082.1:p.Gly71Cys
XM_011533595.1:c.67G>T XP_011531897.1:p.Gly23Cys
XM_011533596.1:c.67G>T XP_011531898.1:p.Gly23Cys
XR_940416.1:n.491G>T
NM_000172.4:c.211G>T NP_000163.2:p.Gly71Cys
NM_144499.3:c.211G>T MANE Select NP_653082.1:p.Gly71Cys
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