Canonical Allele Identifier: CA177704304

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs1007283548
• gnomAD v2: 8-57360397-G-A
• gnomAD v3: 8-56447838-G-A
• gnomAD v4: 8-56447838-G-A
• MyVariant Identifiers: chr8:g.57360397G>A (hg19) ; chr8:g.56447838G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447838G>A , CM000670.2:g.56447838G>A	GRCh38
NC_000008.10:g.57360397G>A , CM000670.1:g.57360397G>A	GRCh37
NC_000008.9:g.57522951G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1338G>A