Canonical Allele Identifier: CA1114146161
Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs968569967
gnomAD v3: 8-56447791-T-G
gnomAD v4: 8-56447791-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447791T>G , CM000670.2:g.56447791T>G GRCh38
NC_000008.10:g.57360350T>G , CM000670.1:g.57360350T>G GRCh37
NC_000008.9:g.57522904T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125813.1:n.694+1291T>G