Canonical Allele Identifier: CA340638991
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593548C>G , CM000663.2:g.63593548C>G GRCh38
NC_000001.10:g.64059219C>G , CM000663.1:g.64059219C>G GRCh37
NC_000001.9:g.63831807C>G NCBI36
NG_016966.1:g.5273C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.60C>G (PGM1) MANE Select ENSP00000360125.3:p.Ser20Arg
ENST00000650546.1:c.60C>G (PGM1) ENSP00000497812.1:p.Ser20Arg
ENST00000371084.7:c.60C>G (PGM1) ENSP00000360125.3:p.Ser20Arg
ENST00000478138.1:n.174G>C (ITGB3BP)
NM_002633.2:c.60C>G (PGM1) NP_002624.2:p.Ser20Arg
NM_002633.3:c.60C>G (PGM1) MANE Select NP_002624.2:p.Ser20Arg