Canonical Allele Identifier: CA1818353876
Gene: POU5F1B HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs7013278

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127402647T>G , CM000670.2:g.127402647T>G GRCh38
NC_000008.10:g.128414892T>G , CM000670.1:g.128414892T>G GRCh37
NC_000008.9:g.128484074T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-12241T>G (POU5F1B) ENSP00000495779.1:n.-559-12241T>G
NR_117100.1:n.1176+18182A>C (CASC8)