Canonical Allele Identifier: CA582108579
Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1391072183
gnomAD v2: 8-57360408-G-A
gnomAD v3: 8-56447849-G-A
gnomAD v4: 8-56447849-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447849G>A , CM000670.2:g.56447849G>A GRCh38
NC_000008.10:g.57360408G>A , CM000670.1:g.57360408G>A GRCh37
NC_000008.9:g.57522962G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
NR_125813.1:n.694+1349G>A