Canonical Allele Identifier: CA2412489
Gene: GNAT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 346048
ClinVar RCV Id: RCV000361876 RCV001498016 RCV002520163
dbSNP Id: rs201849628
ExAC: 3:50230789 G / A
gnomAD v2: 3-50230789-G-A
gnomAD v3: 3-50193356-G-A
gnomAD v4: 3-50193356-G-A
MyVariant Identifiers: chr3:g.50230789G>A (hg19) chr3:g.50193356G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50193356G>A , CM000665.2:g.50193356G>A GRCh38
NC_000003.11:g.50230789G>A , CM000665.1:g.50230789G>A GRCh37
NC_000003.10:g.50205793G>A NCBI36
NG_009831.1:g.6747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000232461.8:c.241G>A MANE Select ENSP00000232461.3:p.Val81Ile
ENST00000232461.7:c.241G>A ENSP00000232461.3:p.Val81Ile
ENST00000433068.5:c.241G>A ENSP00000387555.1:p.Val81Ile
ENST00000440836.1:c.97G>A ENSP00000403537.1:p.Val33Ile
NM_000172.3:c.241G>A NP_000163.2:p.Val81Ile
NM_144499.2:c.241G>A NP_653082.1:p.Val81Ile
XM_011533595.1:c.97G>A XP_011531897.1:p.Val33Ile
XM_011533596.1:c.97G>A XP_011531898.1:p.Val33Ile
XR_940416.1:n.521G>A
NM_000172.4:c.241G>A NP_000163.2:p.Val81Ile
NM_144499.3:c.241G>A MANE Select NP_653082.1:p.Val81Ile
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