Canonical Allele Identifier: CA340646183
Gene: PGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629542G>A , CM000663.2:g.63629542G>A GRCh38
NC_000001.10:g.64095213G>A , CM000663.1:g.64095213G>A GRCh37
NC_000001.9:g.63867801G>A NCBI36
NG_016966.1:g.41267G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.364G>A MANE Select ENSP00000360125.3:p.Gly122Ser
ENST00000650546.1:c.364G>A ENSP00000497812.1:p.Gly122Ser
ENST00000371083.4:c.418G>A ENSP00000360124.4:p.Gly140Ser
ENST00000371084.7:c.364G>A ENSP00000360125.3:p.Gly122Ser
ENST00000540265.5:c.-228G>A ENSP00000443449.1:n.-228G>A
NM_001172818.1:c.418G>A NP_001166289.1:p.Gly140Ser
NM_001172819.1:c.-228G>A NP_001166290.1:n.-228G>A
NM_002633.2:c.364G>A NP_002624.2:p.Gly122Ser
NM_002633.3:c.364G>A MANE Select NP_002624.2:p.Gly122Ser
NM_001172819.2:c.-228G>A NP_001166290.1:n.-228G>A