Canonical Allele Identifier: CA177704297

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs917328402
• gnomAD v2: 8-57360368-C-G
• MyVariant Identifiers: chr8:g.57360368C>G (hg19) ; chr8:g.56447809C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447809C>G , CM000670.2:g.56447809C>G	GRCh38
NC_000008.10:g.57360368C>G , CM000670.1:g.57360368C>G	GRCh37
NC_000008.9:g.57522922C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_125813.1:n.694+1309C>G