Canonical Allele Identifier: CA241398563

Gene: PGAM1P5

Linked Data

• dbSNP Id: rs999586121
• gnomAD v2: 12-95959859-A-C
• gnomAD v3: 12-95566083-A-C
• gnomAD v4: 12-95566083-A-C
• MyVariant Identifiers: chr12:g.95959859A>C (hg19) ; chr12:g.95566083A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95566083A>C , CM000674.2:g.95566083A>C	GRCh38
NC_000012.11:g.95959859A>C , CM000674.1:g.95959859A>C	GRCh37
NC_000012.10:g.94483990A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000626376.2:n.219+14283A>C