Canonical Allele Identifier: CA341539606

Gene: GNAT2 GNAI3

Linked Data

• gnomAD v4: 1-109608630-C-T
• MyVariant Identifiers: chr1:g.110151252C>T (hg19) ; chr1:g.109608630C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109608630C>T , CM000663.2:g.109608630C>T	GRCh38
NC_000001.10:g.110151252C>T , CM000663.1:g.110151252C>T	GRCh37
NC_000001.9:g.109952775C>T	NCBI36
NG_009099.1:g.9454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351050.8:c.461+1G>A (GNAT2)	ENSP00000251337.3:n.461+1G>A
ENST00000679935.1:c.461+1G>A (GNAT2) MANE Select	ENSP00000505083.1:n.461+1G>A
ENST00000351050.7:c.461+1G>A (GNAT2)	ENSP00000251337.3:n.461+1G>A
ENST00000369851.5:c.*16308C>T (GNAI3)	ENSP00000358867.4:n.*16308C>T
NM_005272.3:c.461+1G>A (GNAT2)	NP_005263.1:n.461+1G>A
XM_011541264.1:c.461+1G>A (GNAT2)	XP_011539566.1:n.461+1G>A
XM_011541265.1:c.461+1G>A (GNAT2)	XP_011539567.1:n.461+1G>A
XM_011541266.1:c.461+1G>A (GNAT2)	XP_011539568.1:n.461+1G>A
XM_011541264.2:c.461+1G>A (GNAT2)	XP_011539566.1:n.461+1G>A
NM_001377295.1:c.461+1G>A (GNAT2)	NP_001364224.1:n.461+1G>A
NM_005272.5:c.461+1G>A (GNAT2)	NP_005263.1:n.461+1G>A
NM_001377295.2:c.461+1G>A (GNAT2) MANE Select	NP_001364224.1:n.461+1G>A
NM_001379232.1:c.461+1G>A (GNAT2)	NP_001366161.1:n.461+1G>A