Canonical Allele Identifier: CA23820513

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs1015038005
• gnomAD v3: 1-63593376-T-G
• gnomAD v4: 1-63593376-T-G
• MyVariant Identifiers: chr1:g.64059047T>G (hg19) ; chr1:g.63593376T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593376T>G , CM000663.2:g.63593376T>G	GRCh38
NC_000001.10:g.64059047T>G , CM000663.1:g.64059047T>G	GRCh37
NC_000001.9:g.63831635T>G	NCBI36
NG_016966.1:g.5101T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.7:c.-113T>G (PGM1)	ENSP00000360125.3:n.-113T>G
ENST00000478138.1:n.197+149A>C (ITGB3BP)
NM_002633.2:c.-113T>G (PGM1)	NP_002624.2:n.-113T>G