Canonical Allele Identifier: CA606760773

Gene: PGAM1P5

Linked Data

• dbSNP Id: rs1429147272
• gnomAD v2: 12-95959870-C-T
• gnomAD v3: 12-95566094-C-T
• gnomAD v4: 12-95566094-C-T
• MyVariant Identifiers: chr12:g.95959870C>T (hg19) ; chr12:g.95566094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95566094C>T , CM000674.2:g.95566094C>T	GRCh38
NC_000012.11:g.95959870C>T , CM000674.1:g.95959870C>T	GRCh37
NC_000012.10:g.94484001C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000626376.2:n.219+14294C>T