Canonical Allele Identifier: CA2574393184
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593426T>A , CM000663.2:g.63593426T>A GRCh38
NC_000001.10:g.64059097T>A , CM000663.1:g.64059097T>A GRCh37
NC_000001.9:g.63831685T>A NCBI36
NG_016966.1:g.5151T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-63T>A (PGM1) MANE Select ENSP00000360125.3:n.-63T>A
ENST00000650546.1:c.-63T>A (PGM1) ENSP00000497812.1:n.-63T>A
ENST00000371084.7:c.-63T>A (PGM1) ENSP00000360125.3:n.-63T>A
ENST00000478138.1:n.197+99A>T (ITGB3BP)
NM_002633.2:c.-63T>A (PGM1) NP_002624.2:n.-63T>A
NM_002633.3:c.-63T>A (PGM1) MANE Select NP_002624.2:n.-63T>A