Canonical Allele Identifier: CA502927852

Gene: GNAL

Linked Data

• dbSNP Id: rs1303396701
• gnomAD v2: 18-11881116-G-A
• gnomAD v3: 18-11881117-G-A
• gnomAD v4: 18-11881117-G-A
• MyVariant Identifiers: chr18:g.11881116G>A (hg19) ; chr18:g.11881117G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11881117G>A , CM000680.2:g.11881117G>A	GRCh38
NC_000018.9:g.11881116G>A , CM000680.1:g.11881116G>A	GRCh37
NC_000018.8:g.11871116G>A	NCBI36
NG_033866.1:g.197103G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334049.11:c.1359G>A MANE Select	ENSP00000334051.5:p.Lys453=
ENST00000423027.8:c.1128G>A MANE Plus Clinical	ENSP00000408489.2:p.Lys376=
ENST00000269162.9:c.1128G>A	ENSP00000269162.4:p.Lys376=
ENST00000334049.10:c.1359G>A	ENSP00000334051.5:p.Lys453=
ENST00000423027.7:c.1128G>A	ENSP00000408489.2:p.Lys376=
ENST00000535121.5:c.1128G>A	ENSP00000439023.1:p.Lys376=
ENST00000602628.1:c.507G>A	ENSP00000473600.1:p.Lys169=
NM_001142339.2:c.1128G>A	NP_001135811.1:p.Lys376=
NM_001261443.1:c.1128G>A	NP_001248372.1:p.Lys376=
NM_001261444.1:c.507G>A	NP_001248373.1:p.Lys169=
NM_182978.3:c.1359G>A	NP_892023.1:p.Lys453=
XM_006722323.2:c.1128G>A	XP_006722386.1:p.Lys376=
XM_011525654.1:c.1128G>A	XP_011523956.1:p.Lys376=
XM_024451164.1:c.1128G>A	XP_024306932.1:p.Lys376=
NM_182978.4:c.1359G>A MANE Select	NP_892023.1:p.Lys453=
NM_001261444.2:c.507G>A	NP_001248373.1:p.Lys169=
NM_001369387.1:c.1128G>A MANE Plus Clinical	NP_001356316.1:p.Lys376=
NM_001142339.3:c.1128G>A	NP_001135811.1:p.Lys376=
NM_001261443.2:c.1128G>A	NP_001248372.1:p.Lys376=