Canonical Allele Identifier: CA406099046
Gene: GSK3A HGNC NCBI

Linked Data

ClinVar Variation Id: 427787
ClinVar RCV Id: RCV000492062
dbSNP Id: rs1131690798

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42242320C>G , CM000681.2:g.42242320C>G GRCh38
NC_000019.9:g.42746472C>G , CM000681.1:g.42746472C>G GRCh37
NC_000019.8:g.47438312C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000222330.8:c.146G>C MANE Select ENSP00000222330.3:p.Gly49Ala
ENST00000676537.1:c.94+52G>C ENSP00000503256.1:n.94+52G>C
ENST00000676949.1:n.31-2178G>C
ENST00000678258.1:c.146G>C ENSP00000504792.1:p.Gly49Ala
ENST00000678276.1:c.146G>C ENSP00000502930.1:p.Gly49Ala
ENST00000678491.1:c.146G>C ENSP00000504460.1:p.Gly49Ala
ENST00000222330.7:c.146G>C ENSP00000222330.3:p.Gly49Ala
ENST00000453535.1:c.146G>C ENSP00000412663.1:p.Gly49Ala
ENST00000594664.1:c.23-2178G>C ENSP00000470087.1:n.23-2178G>C
NM_019884.2:c.146G>C NP_063937.2:p.Gly49Ala
XR_001753673.1:n.1011G>C
NM_019884.3:c.146G>C MANE Select NP_063937.2:p.Gly49Ala