Canonical Allele Identifier: CA12739505
Gene: POU5F1B HGNC NCBI
CASC8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127395871C>T , CM000670.2:g.127395871C>T GRCh38
NC_000008.10:g.128408116C>T , CM000670.1:g.128408116C>T GRCh37
NC_000008.9:g.128477298C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-19017C>T (POU5F1B) ENSP00000495779.1:n.-559-19017C>T
NR_117100.1:n.1176+24958G>A (CASC8)