Canonical Allele Identifier: CA352913645

Gene: GNAT1

Linked Data

• dbSNP Id: rs1699443746
• gnomAD v4: 3-50193360-G-A
• MyVariant Identifiers: chr3:g.50230793G>A (hg19) ; chr3:g.50193360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193360G>A , CM000665.2:g.50193360G>A	GRCh38
NC_000003.11:g.50230793G>A , CM000665.1:g.50230793G>A	GRCh37
NC_000003.10:g.50205797G>A	NCBI36
NG_009831.1:g.6751G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.245G>A MANE Select	ENSP00000232461.3:p.Arg82His
ENST00000232461.7:c.245G>A	ENSP00000232461.3:p.Arg82His
ENST00000433068.5:c.245G>A	ENSP00000387555.1:p.Arg82His
ENST00000440836.1:c.101G>A	ENSP00000403537.1:p.Arg34His
NM_000172.3:c.245G>A	NP_000163.2:p.Arg82His
NM_144499.2:c.245G>A	NP_653082.1:p.Arg82His
XM_011533595.1:c.101G>A	XP_011531897.1:p.Arg34His
XM_011533596.1:c.101G>A	XP_011531898.1:p.Arg34His
XR_940416.1:n.525G>A
NM_000172.4:c.245G>A	NP_000163.2:p.Arg82His
NM_144499.3:c.245G>A MANE Select	NP_653082.1:p.Arg82His