Canonical Allele Identifier: CA889435
Gene: PGM1 HGNC NCBI

Linked Data

dbSNP Id: rs756714563
gnomAD v2: 1-64089214-C-T
gnomAD v3: 1-63623543-C-T
gnomAD v4: 1-63623543-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63623543C>T , CM000663.2:g.63623543C>T GRCh38
NC_000001.10:g.64089214C>T , CM000663.1:g.64089214C>T GRCh37
NC_000001.9:g.63861802C>T NCBI36
NG_016966.1:g.35268C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-5882C>T MANE Select ENSP00000360125.3:n.247-5882C>T
ENST00000650546.1:c.247-5882C>T ENSP00000497812.1:n.247-5882C>T
ENST00000371083.4:c.83C>T ENSP00000360124.4:p.Ala28Val
ENST00000371084.7:c.247-5882C>T ENSP00000360125.3:n.247-5882C>T
ENST00000540265.5:c.-345-5882C>T ENSP00000443449.1:n.-345-5882C>T
NM_001172818.1:c.83C>T NP_001166289.1:p.Ala28Val
NM_001172819.1:c.-345-5882C>T NP_001166290.1:n.-345-5882C>T
NM_002633.2:c.247-5882C>T NP_002624.2:n.247-5882C>T
NM_002633.3:c.247-5882C>T MANE Select NP_002624.2:n.247-5882C>T
NM_001172819.2:c.-345-5882C>T NP_001166290.1:n.-345-5882C>T