Canonical Allele Identifier: CA401928272

Gene: GNAL

Linked Data

• ClinVar Variation Id: 2138128
• ClinVar RCV Id: RCV003064500
• MyVariant Identifiers: chr18:g.11881049T>C (hg19) ; chr18:g.11881050T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881050T>C , CM000680.2:g.11881050T>C	GRCh38
NC_000018.9:g.11881049T>C , CM000680.1:g.11881049T>C	GRCh37
NC_000018.8:g.11871049T>C	NCBI36
NG_033866.1:g.197036T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334049.11:c.1292T>C MANE Select	ENSP00000334051.5:p.Val431Ala
ENST00000423027.8:c.1061T>C MANE Plus Clinical	ENSP00000408489.2:p.Val354Ala
ENST00000269162.9:c.1061T>C	ENSP00000269162.4:p.Val354Ala
ENST00000334049.10:c.1292T>C	ENSP00000334051.5:p.Val431Ala
ENST00000423027.7:c.1061T>C	ENSP00000408489.2:p.Val354Ala
ENST00000535121.5:c.1061T>C	ENSP00000439023.1:p.Val354Ala
ENST00000602628.1:c.440T>C	ENSP00000473600.1:p.Val147Ala
NM_001142339.2:c.1061T>C	NP_001135811.1:p.Val354Ala
NM_001261443.1:c.1061T>C	NP_001248372.1:p.Val354Ala
NM_001261444.1:c.440T>C	NP_001248373.1:p.Val147Ala
NM_182978.3:c.1292T>C	NP_892023.1:p.Val431Ala
XM_006722323.2:c.1061T>C	XP_006722386.1:p.Val354Ala
XM_011525654.1:c.1061T>C	XP_011523956.1:p.Val354Ala
XM_024451164.1:c.1061T>C	XP_024306932.1:p.Val354Ala
NM_182978.4:c.1292T>C MANE Select	NP_892023.1:p.Val431Ala
NM_001261444.2:c.440T>C	NP_001248373.1:p.Val147Ala
NM_001369387.1:c.1061T>C MANE Plus Clinical	NP_001356316.1:p.Val354Ala
NM_001142339.3:c.1061T>C	NP_001135811.1:p.Val354Ala
NM_001261443.2:c.1061T>C	NP_001248372.1:p.Val354Ala