Canonical Allele Identifier: CA23820546

Gene: PGM1 ITGB3BP

Linked Data

• dbSNP Id: rs368246894
• gnomAD v2: 1-64059081-C-T
• gnomAD v3: 1-63593410-C-T
• gnomAD v4: 1-63593410-C-T
• MyVariant Identifiers: chr1:g.64059081C>T (hg19) ; chr1:g.63593410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63593410C>T , CM000663.2:g.63593410C>T	GRCh38
NC_000001.10:g.64059081C>T , CM000663.1:g.64059081C>T	GRCh37
NC_000001.9:g.63831669C>T	NCBI36
NG_016966.1:g.5135C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.7:c.-79C>T (PGM1)	ENSP00000360125.3:n.-79C>T
ENST00000478138.1:n.197+115G>A (ITGB3BP)
NM_002633.2:c.-79C>T (PGM1)	NP_002624.2:n.-79C>T