Canonical Allele Identifier: CA1114146183
Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1804699909
gnomAD v3: 8-56447845-G-T
gnomAD v4: 8-56447845-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447845G>T , CM000670.2:g.56447845G>T GRCh38
NC_000008.10:g.57360404G>T , CM000670.1:g.57360404G>T GRCh37
NC_000008.9:g.57522958G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125813.1:n.694+1345G>T