Canonical Allele Identifier: CA582108578

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs930664025
• gnomAD v2: 8-57360403-C-G
• gnomAD v3: 8-56447844-C-G
• gnomAD v4: 8-56447844-C-G
• MyVariant Identifiers: chr8:g.57360403C>G (hg19) ; chr8:g.56447844C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447844C>G , CM000670.2:g.56447844C>G	GRCh38
NC_000008.10:g.57360403C>G , CM000670.1:g.57360403C>G	GRCh37
NC_000008.9:g.57522957C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1344C>G