Canonical Allele Identifier: CA177704306

Gene: PENK-AS1

Linked Data

• dbSNP Id: rs1050662049
• gnomAD v3: 8-56447846-T-C
• gnomAD v4: 8-56447846-T-C
• MyVariant Identifiers: chr8:g.57360405T>C (hg19) ; chr8:g.56447846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56447846T>C , CM000670.2:g.56447846T>C	GRCh38
NC_000008.10:g.57360405T>C , CM000670.1:g.57360405T>C	GRCh37
NC_000008.9:g.57522959T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_125813.1:n.694+1346T>C