Canonical Allele Identifier: CA2646032691
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593397-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593397C>T , CM000663.2:g.63593397C>T GRCh38
NC_000001.10:g.64059068C>T , CM000663.1:g.64059068C>T GRCh37
NC_000001.9:g.63831656C>T NCBI36
NG_016966.1:g.5122C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-92C>T (PGM1) ENSP00000360125.3:n.-92C>T
ENST00000478138.1:n.197+128G>A (ITGB3BP)
NM_002633.2:c.-92C>T (PGM1) NP_002624.2:n.-92C>T