Canonical Allele Identifier: CA1148224364
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593600A= , CM000663.2:g.63593600A= GRCh38
NC_000001.10:g.64059271A= , CM000663.1:g.64059271A= GRCh37
NC_000001.9:g.63831859A= NCBI36
NG_016966.1:g.5325A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.112A= (PGM1) MANE Select ENSP00000360125.3:p.Asn38=
ENST00000650546.1:c.112A= (PGM1) ENSP00000497812.1:p.Asn38=
ENST00000371084.7:c.112A= (PGM1) ENSP00000360125.3:p.Asn38=
ENST00000478138.1:n.122T= (ITGB3BP)
NM_002633.2:c.112A= (PGM1) NP_002624.2:p.Asn38=
NM_002633.3:c.112A= (PGM1) MANE Select NP_002624.2:p.Asn38=