Canonical Allele Identifier: CA647892183

Gene: GNAT1

Linked Data

• dbSNP Id: rs745833016
• gnomAD v3: 3-50193122-G-A
• gnomAD v4: 3-50193122-G-A
• COSMIC: COSN24407478
• MyVariant Identifiers: chr3:g.50230555G>A (hg19) ; chr3:g.50193122G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50193122G>A , CM000665.2:g.50193122G>A	GRCh38
NC_000003.11:g.50230555G>A , CM000665.1:g.50230555G>A	GRCh37
NC_000003.10:g.50205559G>A	NCBI36
NG_009831.1:g.6513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000232461.8:c.107-11G>A MANE Select	ENSP00000232461.3:n.107-11G>A
ENST00000232461.7:c.107-11G>A	ENSP00000232461.3:n.107-11G>A
ENST00000433068.5:c.107-11G>A	ENSP00000387555.1:n.107-11G>A
ENST00000440836.1:c.-38-11G>A	ENSP00000403537.1:n.-38-11G>A
ENST00000467787.1:n.288-11G>A
NM_000172.3:c.107-11G>A	NP_000163.2:n.107-11G>A
NM_144499.2:c.107-11G>A	NP_653082.1:n.107-11G>A
XM_011533595.1:c.-38-11G>A	XP_011531897.1:n.-38-11G>A
XM_011533596.1:c.-38-11G>A	XP_011531898.1:n.-38-11G>A
XR_940416.1:n.387-11G>A
NM_000172.4:c.107-11G>A	NP_000163.2:n.107-11G>A
NM_144499.3:c.107-11G>A MANE Select	NP_653082.1:n.107-11G>A