Canonical Allele Identifier: CA296059549

Gene: GNAL

Linked Data

• dbSNP Id: rs1008012389
• gnomAD v3: 18-11881981-G-A
• gnomAD v4: 18-11881981-G-A
• MyVariant Identifiers: chr18:g.11881980G>A (hg19) ; chr18:g.11881981G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881981G>A , CM000680.2:g.11881981G>A	GRCh38
NC_000018.9:g.11881980G>A , CM000680.1:g.11881980G>A	GRCh37
NC_000018.8:g.11871980G>A	NCBI36
NG_033866.1:g.197967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.*846G>A MANE Select	ENSP00000334051.5:n.*846G>A
ENST00000423027.8:c.*846G>A MANE Plus Clinical	ENSP00000408489.2:n.*846G>A
ENST00000334049.10:c.*846G>A	ENSP00000334051.5:n.*846G>A
NM_001142339.2:c.*846G>A	NP_001135811.1:n.*846G>A
NM_001261443.1:c.*846G>A	NP_001248372.1:n.*846G>A
NM_001261444.1:c.*846G>A	NP_001248373.1:n.*846G>A
NM_182978.3:c.*846G>A	NP_892023.1:n.*846G>A
XM_024451164.1:c.*846G>A	XP_024306932.1:n.*846G>A
NM_182978.4:c.*846G>A MANE Select	NP_892023.1:n.*846G>A
NM_001261444.2:c.*846G>A	NP_001248373.1:n.*846G>A
NM_001369387.1:c.*846G>A MANE Plus Clinical	NP_001356316.1:n.*846G>A
NM_001142339.3:c.*846G>A	NP_001135811.1:n.*846G>A
NM_001261443.2:c.*846G>A	NP_001248372.1:n.*846G>A