Canonical Allele Identifier: CA352913660
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1509305
ClinVar RCV Id: RCV002040640
dbSNP Id: rs1325267297
gnomAD v2: 3-50230795-G-A
gnomAD v4: 3-50193362-G-A
COSMIC: COSM145454
MyVariant Identifiers: chr3:g.50230795G>A (hg19) chr3:g.50193362G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193362G>A , CM000665.2:g.50193362G>A GRCh38
NC_000003.11:g.50230795G>A , CM000665.1:g.50230795G>A GRCh37
NC_000003.10:g.50205799G>A NCBI36
NG_009831.1:g.6753G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.247G>A MANE Select ENSP00000232461.3:p.Ala83Thr
ENST00000232461.7:c.247G>A ENSP00000232461.3:p.Ala83Thr
ENST00000433068.5:c.247G>A ENSP00000387555.1:p.Ala83Thr
ENST00000440836.1:c.103G>A ENSP00000403537.1:p.Ala35Thr
NM_000172.3:c.247G>A NP_000163.2:p.Ala83Thr
NM_144499.2:c.247G>A NP_653082.1:p.Ala83Thr
XM_011533595.1:c.103G>A XP_011531897.1:p.Ala35Thr
XM_011533596.1:c.103G>A XP_011531898.1:p.Ala35Thr
XR_940416.1:n.527G>A
NM_000172.4:c.247G>A NP_000163.2:p.Ala83Thr
NM_144499.3:c.247G>A MANE Select NP_653082.1:p.Ala83Thr
Search 100 bp 5'
Search 100 bp 3'