Canonical Allele Identifier: CA2688553306
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

gnomAD v4: 8-127401464-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401464C>A , CM000670.2:g.127401464C>A GRCh38
NC_000008.10:g.128413709C>A , CM000670.1:g.128413709C>A GRCh37
NC_000008.9:g.128482891C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13424C>A (POU5F1B) ENSP00000495779.1:n.-559-13424C>A
NR_109834.1:n.1066C>A (CCAT2)
NR_117100.1:n.1176+19365G>T (CASC8)
Search 100 bp 5'
Search 100 bp 3'