Canonical Allele Identifier: CA1171568747
Gene: PGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623614T= , CM000663.2:g.63623614T= GRCh38
NC_000001.10:g.64089285T= , CM000663.1:g.64089285T= GRCh37
NC_000001.9:g.63861873T= NCBI36
NG_016966.1:g.35339T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5811T= MANE Select ENSP00000360125.3:n.247-5811T=
ENST00000650546.1:c.247-5811T= ENSP00000497812.1:n.247-5811T=
ENST00000371083.4:c.154T= ENSP00000360124.4:p.Cys52=
ENST00000371084.7:c.247-5811T= ENSP00000360125.3:n.247-5811T=
ENST00000540265.5:c.-345-5811T= ENSP00000443449.1:n.-345-5811T=
NM_001172818.1:c.154T= NP_001166289.1:p.Cys52=
NM_001172819.1:c.-345-5811T= NP_001166290.1:n.-345-5811T=
NM_002633.2:c.247-5811T= NP_002624.2:n.247-5811T=
NM_002633.3:c.247-5811T= MANE Select NP_002624.2:n.247-5811T=
NM_001172819.2:c.-345-5811T= NP_001166290.1:n.-345-5811T=