Canonical Allele Identifier: CA987867625

Gene: GNAL

Linked Data

• dbSNP Id: rs2036703908
• gnomAD v3: 18-11881941-T-C
• gnomAD v4: 18-11881941-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881941T>C , CM000680.2:g.11881941T>C	GRCh38
NC_000018.9:g.11881940T>C , CM000680.1:g.11881940T>C	GRCh37
NC_000018.8:g.11871940T>C	NCBI36
NG_033866.1:g.197927T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.*806T>C MANE Select	ENSP00000334051.5:n.*806T>C
ENST00000423027.8:c.*806T>C MANE Plus Clinical	ENSP00000408489.2:n.*806T>C
ENST00000334049.10:c.*806T>C	ENSP00000334051.5:n.*806T>C
NM_001142339.2:c.*806T>C	NP_001135811.1:n.*806T>C
NM_001261443.1:c.*806T>C	NP_001248372.1:n.*806T>C
NM_001261444.1:c.*806T>C	NP_001248373.1:n.*806T>C
NM_182978.3:c.*806T>C	NP_892023.1:n.*806T>C
XM_024451164.1:c.*806T>C	XP_024306932.1:n.*806T>C
NM_182978.4:c.*806T>C MANE Select	NP_892023.1:n.*806T>C
NM_001261444.2:c.*806T>C	NP_001248373.1:n.*806T>C
NM_001369387.1:c.*806T>C MANE Plus Clinical	NP_001356316.1:n.*806T>C
NM_001142339.3:c.*806T>C	NP_001135811.1:n.*806T>C
NM_001261443.2:c.*806T>C	NP_001248372.1:n.*806T>C