Canonical Allele Identifier: CA1171556220
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593349G= , CM000663.2:g.63593349G= GRCh38
NC_000001.10:g.64059020G= , CM000663.1:g.64059020G= GRCh37
NC_000001.9:g.63831608G= NCBI36
NG_016966.1:g.5074G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-140G= (PGM1) ENSP00000360125.3:n.-140G=
ENST00000478138.1:n.197+176C= (ITGB3BP)
NM_002633.2:c.-140G= (PGM1) NP_002624.2:n.-140G=