Canonical Allele Identifier: CA889442
Gene: PGM1 HGNC NCBI

Linked Data

dbSNP Id: rs780995936
gnomAD v2: 1-64089253-G-A
gnomAD v3: 1-63623582-G-A
gnomAD v4: 1-63623582-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623582G>A , CM000663.2:g.63623582G>A GRCh38
NC_000001.10:g.64089253G>A , CM000663.1:g.64089253G>A GRCh37
NC_000001.9:g.63861841G>A NCBI36
NG_016966.1:g.35307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5843G>A MANE Select ENSP00000360125.3:n.247-5843G>A
ENST00000650546.1:c.247-5843G>A ENSP00000497812.1:n.247-5843G>A
ENST00000371083.4:c.122G>A ENSP00000360124.4:p.Arg41Gln
ENST00000371084.7:c.247-5843G>A ENSP00000360125.3:n.247-5843G>A
ENST00000540265.5:c.-345-5843G>A ENSP00000443449.1:n.-345-5843G>A
NM_001172818.1:c.122G>A NP_001166289.1:p.Arg41Gln
NM_001172819.1:c.-345-5843G>A NP_001166290.1:n.-345-5843G>A
NM_002633.2:c.247-5843G>A NP_002624.2:n.247-5843G>A
NM_002633.3:c.247-5843G>A MANE Select NP_002624.2:n.247-5843G>A
NM_001172819.2:c.-345-5843G>A NP_001166290.1:n.-345-5843G>A