Canonical Allele Identifier: CA177704303

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs150559213
• gnomAD v2: 8-57360396-C-T
• gnomAD v3: 8-56447837-C-T
• gnomAD v4: 8-56447837-C-T
• MyVariant Identifiers: chr8:g.57360396C>T (hg19) ; chr8:g.56447837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447837C>T , CM000670.2:g.56447837C>T	GRCh38
NC_000008.10:g.57360396C>T , CM000670.1:g.57360396C>T	GRCh37
NC_000008.9:g.57522950C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1337C>T