Canonical Allele Identifier: CA123324
Gene: PGM1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13650
ClinVar RCV Id: RCV000014620
dbSNP Id: rs121918371

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629521A>G , CM000663.2:g.63629521A>G GRCh38
NC_000001.9:g.63867780A>G NCBI36
NC_000001.10:g.64095192A>G , CM000663.1:g.64095192A>G GRCh37
NG_016966.1:g.41246A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000371083.4:c.397A>G ENSP00000360124.4:p.Thr133Ala
ENST00000371084.7:c.343A>G ENSP00000360125.3:p.Thr115Ala
ENST00000540265.5:c.-249A>G ENSP00000443449.1:p.=
NM_001172818.1:c.397A>G NP_001166289.1:p.Thr133Ala
NM_001172819.1:c.-249A>G NP_001166290.1:p.=
NM_002633.2:c.343A>G NP_002624.2:p.Thr115Ala