Canonical Allele Identifier: CA2574393176
Gene: PGM1 HGNC NCBI
ITGB3BP HGNC NCBI

Linked Data

gnomAD v4: 1-63593404-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63593404T>C , CM000663.2:g.63593404T>C GRCh38
NC_000001.10:g.64059075T>C , CM000663.1:g.64059075T>C GRCh37
NC_000001.9:g.63831663T>C NCBI36
NG_016966.1:g.5129T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.7:c.-85T>C (PGM1) ENSP00000360125.3:n.-85T>C
ENST00000478138.1:n.197+121A>G (ITGB3BP)
NM_002633.2:c.-85T>C (PGM1) NP_002624.2:n.-85T>C