Canonical Allele Identifier: CA23820529

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs935255839
• gnomAD v4: 1-63593391-A-C
• MyVariant Identifiers: chr1:g.64059062A>C (hg19) ; chr1:g.63593391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593391A>C , CM000663.2:g.63593391A>C	GRCh38
NC_000001.10:g.64059062A>C , CM000663.1:g.64059062A>C	GRCh37
NC_000001.9:g.63831650A>C	NCBI36
NG_016966.1:g.5116A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.7:c.-98A>C (PGM1)	ENSP00000360125.3:n.-98A>C
ENST00000478138.1:n.197+134T>G (ITGB3BP)
NM_002633.2:c.-98A>C (PGM1)	NP_002624.2:n.-98A>C