Canonical Allele Identifier: CA889451
Gene: PGM1 HGNC NCBI

Linked Data

dbSNP Id: rs750835021
gnomAD v2: 1-64089285-T-A
gnomAD v4: 1-63623614-T-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5811T>A MANE Select ENSP00000360125.3:n.247-5811T>A
ENST00000650546.1:c.247-5811T>A ENSP00000497812.1:n.247-5811T>A
ENST00000371083.4:c.154T>A ENSP00000360124.4:p.Cys52Ser
ENST00000371084.7:c.247-5811T>A ENSP00000360125.3:n.247-5811T>A
ENST00000540265.5:c.-345-5811T>A ENSP00000443449.1:n.-345-5811T>A
NM_001172818.1:c.154T>A NP_001166289.1:p.Cys52Ser
NM_001172819.1:c.-345-5811T>A NP_001166290.1:n.-345-5811T>A
NM_002633.2:c.247-5811T>A NP_002624.2:n.247-5811T>A
NM_002633.3:c.247-5811T>A MANE Select NP_002624.2:n.247-5811T>A
NM_001172819.2:c.-345-5811T>A NP_001166290.1:n.-345-5811T>A