Canonical Allele Identifier: CA853453034

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs1339563782
• gnomAD v3: 8-56447843-C-A
• gnomAD v4: 8-56447843-C-A
• MyVariant Identifiers: chr8:g.57360402C>A (hg19) ; chr8:g.56447843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447843C>A , CM000670.2:g.56447843C>A	GRCh38
NC_000008.10:g.57360402C>A , CM000670.1:g.57360402C>A	GRCh37
NC_000008.9:g.57522956C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1343C>A