Canonical Allele Identifier: CA340645457
Gene: PGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629429G>T , CM000663.2:g.63629429G>T GRCh38
NC_000001.10:g.64095100G>T , CM000663.1:g.64095100G>T GRCh37
NC_000001.9:g.63867688G>T NCBI36
NG_016966.1:g.41154G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.251G>T MANE Select ENSP00000360125.3:p.Gly84Val
ENST00000650546.1:c.251G>T ENSP00000497812.1:p.Gly84Val
ENST00000371083.4:c.305G>T ENSP00000360124.4:p.Gly102Val
ENST00000371084.7:c.251G>T ENSP00000360125.3:p.Gly84Val
ENST00000540265.5:c.-341G>T ENSP00000443449.1:n.-341G>T
NM_001172818.1:c.305G>T NP_001166289.1:p.Gly102Val
NM_001172819.1:c.-341G>T NP_001166290.1:n.-341G>T
NM_002633.2:c.251G>T NP_002624.2:p.Gly84Val
NM_002633.3:c.251G>T MANE Select NP_002624.2:p.Gly84Val
NM_001172819.2:c.-341G>T NP_001166290.1:n.-341G>T