Canonical Allele Identifier: CA177704299
Gene: PENK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs565045589
gnomAD v3: 8-56447823-A-G
gnomAD v4: 8-56447823-A-G
MyVariant Identifiers: chr8:g.56447823A>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56447823A>G , CM000670.2:g.56447823A>G GRCh38
NC_000008.10:g.57360382A>G , CM000670.1:g.57360382A>G GRCh37
NC_000008.9:g.57522936A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_125813.1:n.694+1323A>G