Canonical Allele Identifier: CA1114146150
Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1804698228
gnomAD v3: 8-56447784-C-T
gnomAD v4: 8-56447784-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447784C>T , CM000670.2:g.56447784C>T GRCh38
NC_000008.10:g.57360343C>T , CM000670.1:g.57360343C>T GRCh37
NC_000008.9:g.57522897C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125813.1:n.694+1284C>T