Canonical Allele Identifier: CA2646032728
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593475-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593475A>T , CM000663.2:g.63593475A>T GRCh38
NC_000001.10:g.64059146A>T , CM000663.1:g.64059146A>T GRCh37
NC_000001.9:g.63831734A>T NCBI36
NG_016966.1:g.5200A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.-14A>T (PGM1) MANE Select ENSP00000360125.3:n.-14A>T
ENST00000650546.1:c.-14A>T (PGM1) ENSP00000497812.1:n.-14A>T
ENST00000371084.7:c.-14A>T (PGM1) ENSP00000360125.3:n.-14A>T
ENST00000478138.1:n.197+50T>A (ITGB3BP)
NM_002633.2:c.-14A>T (PGM1) NP_002624.2:n.-14A>T
NM_002633.3:c.-14A>T (PGM1) MANE Select NP_002624.2:n.-14A>T