Canonical Allele Identifier: CA2739307233
Community Standard Title: NC_000008.11:g.127395871C>G
Gene: POU5F1B HGNC NCBI
CASC8 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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