Canonical Allele Identifier: CA2740093965

Gene: GNAL

Linked Data

• ClinVar Variation Id: 3003322
• ClinVar RCV Id: RCV003867937

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11880969G>A , CM000680.2:g.11880969G>A	GRCh38
NC_000018.9:g.11880968G>A , CM000680.1:g.11880968G>A	GRCh37
NC_000018.8:g.11870968G>A	NCBI36
NG_033866.1:g.196955G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334049.11:c.1231-20G>A MANE Select	ENSP00000334051.5:n.1231-20G>A
ENST00000423027.8:c.1000-20G>A MANE Plus Clinical	ENSP00000408489.2:n.1000-20G>A
ENST00000269162.9:c.1000-20G>A	ENSP00000269162.4:n.1000-20G>A
ENST00000334049.10:c.1231-20G>A	ENSP00000334051.5:n.1231-20G>A
ENST00000423027.7:c.1000-20G>A	ENSP00000408489.2:n.1000-20G>A
ENST00000535121.5:c.1000-20G>A	ENSP00000439023.1:n.1000-20G>A
ENST00000602628.1:c.379-20G>A	ENSP00000473600.1:n.379-20G>A
NM_001142339.2:c.1000-20G>A	NP_001135811.1:n.1000-20G>A
NM_001261443.1:c.1000-20G>A	NP_001248372.1:n.1000-20G>A
NM_001261444.1:c.379-20G>A	NP_001248373.1:n.379-20G>A
NM_182978.3:c.1231-20G>A	NP_892023.1:n.1231-20G>A
XM_006722323.2:c.1000-20G>A	XP_006722386.1:n.1000-20G>A
XM_011525654.1:c.1000-20G>A	XP_011523956.1:n.1000-20G>A
XM_024451164.1:c.1000-20G>A	XP_024306932.1:n.1000-20G>A
NM_182978.4:c.1231-20G>A MANE Select	NP_892023.1:n.1231-20G>A
NM_001261444.2:c.379-20G>A	NP_001248373.1:n.379-20G>A
NM_001369387.1:c.1000-20G>A MANE Plus Clinical	NP_001356316.1:n.1000-20G>A
NM_001142339.3:c.1000-20G>A	NP_001135811.1:n.1000-20G>A
NM_001261443.2:c.1000-20G>A	NP_001248372.1:n.1000-20G>A