Canonical Allele Identifier: CA340646471
Gene: PGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629584G>T , CM000663.2:g.63629584G>T GRCh38
NC_000001.10:g.64095255G>T , CM000663.1:g.64095255G>T GRCh37
NC_000001.9:g.63867843G>T NCBI36
NG_016966.1:g.41309G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.406G>T MANE Select ENSP00000360125.3:p.Gly136Ter
ENST00000650546.1:c.406G>T ENSP00000497812.1:p.Gly136Ter
ENST00000371083.4:c.460G>T ENSP00000360124.4:p.Gly154Ter
ENST00000371084.7:c.406G>T ENSP00000360125.3:p.Gly136Ter
ENST00000540265.5:c.-186G>T ENSP00000443449.1:n.-186G>T
NM_001172818.1:c.460G>T NP_001166289.1:p.Gly154Ter
NM_001172819.1:c.-186G>T NP_001166290.1:n.-186G>T
NM_002633.2:c.406G>T NP_002624.2:p.Gly136Ter
NM_002633.3:c.406G>T MANE Select NP_002624.2:p.Gly136Ter
NM_001172819.2:c.-186G>T NP_001166290.1:n.-186G>T