Canonical Allele Identifier: CA352912524

Gene: GNAT1

Linked Data

• dbSNP Id: rs1699441764
• gnomAD v4: 3-50193273-A-G
• MyVariant Identifiers: chr3:g.50230706A>G (hg19) ; chr3:g.50193273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193273A>G , CM000665.2:g.50193273A>G	GRCh38
NC_000003.11:g.50230706A>G , CM000665.1:g.50230706A>G	GRCh37
NC_000003.10:g.50205710A>G	NCBI36
NG_009831.1:g.6664A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.158A>G MANE Select	ENSP00000232461.3:p.His53Arg
ENST00000232461.7:c.158A>G	ENSP00000232461.3:p.His53Arg
ENST00000433068.5:c.158A>G	ENSP00000387555.1:p.His53Arg
ENST00000440836.1:c.14A>G	ENSP00000403537.1:p.His5Arg
NM_000172.3:c.158A>G	NP_000163.2:p.His53Arg
NM_144499.2:c.158A>G	NP_653082.1:p.His53Arg
XM_011533595.1:c.14A>G	XP_011531897.1:p.His5Arg
XM_011533596.1:c.14A>G	XP_011531898.1:p.His5Arg
XR_940416.1:n.438A>G
NM_000172.4:c.158A>G	NP_000163.2:p.His53Arg
NM_144499.3:c.158A>G MANE Select	NP_653082.1:p.His53Arg