Canonical Allele Identifier: CA296059665

Gene: GNAL

Linked Data

• dbSNP Id: rs895509119
• gnomAD v3: 18-11882188-C-A
• gnomAD v4: 18-11882188-C-A
• MyVariant Identifiers: chr18:g.11882187C>A (hg19) ; chr18:g.11882188C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.11882188C>A , CM000680.2:g.11882188C>A	GRCh38
NC_000018.9:g.11882187C>A , CM000680.1:g.11882187C>A	GRCh37
NC_000018.8:g.11872187C>A	NCBI36
NG_033866.1:g.198174C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334049.11:c.*1053C>A MANE Select	ENSP00000334051.5:n.*1053C>A
ENST00000423027.8:c.*1053C>A MANE Plus Clinical	ENSP00000408489.2:n.*1053C>A
ENST00000334049.10:c.*1053C>A	ENSP00000334051.5:n.*1053C>A
NM_001142339.2:c.*1053C>A	NP_001135811.1:n.*1053C>A
NM_001261443.1:c.*1053C>A	NP_001248372.1:n.*1053C>A
NM_001261444.1:c.*1053C>A	NP_001248373.1:n.*1053C>A
NM_182978.3:c.*1053C>A	NP_892023.1:n.*1053C>A
XM_024451164.1:c.*1053C>A	XP_024306932.1:n.*1053C>A
NM_182978.4:c.*1053C>A MANE Select	NP_892023.1:n.*1053C>A
NM_001261444.2:c.*1053C>A	NP_001248373.1:n.*1053C>A
NM_001369387.1:c.*1053C>A MANE Plus Clinical	NP_001356316.1:n.*1053C>A
NM_001142339.3:c.*1053C>A	NP_001135811.1:n.*1053C>A
NM_001261443.2:c.*1053C>A	NP_001248372.1:n.*1053C>A