Canonical Allele Identifier: CA606760648

Gene: PGAM1P5

Linked Data

• dbSNP Id: rs1253560296
• gnomAD v2: 12-95959808-T-C
• gnomAD v3: 12-95566032-T-C
• gnomAD v4: 12-95566032-T-C
• MyVariant Identifiers: chr12:g.95959808T>C (hg19) ; chr12:g.95566032T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95566032T>C , CM000674.2:g.95566032T>C	GRCh38
NC_000012.11:g.95959808T>C , CM000674.1:g.95959808T>C	GRCh37
NC_000012.10:g.94483939T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000626376.2:n.219+14232T>C