Canonical Allele Identifier: CA2688553325
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

gnomAD v4: 8-127401518-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401518C>T , CM000670.2:g.127401518C>T GRCh38
NC_000008.10:g.128413763C>T , CM000670.1:g.128413763C>T GRCh37
NC_000008.9:g.128482945C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13370C>T (POU5F1B) ENSP00000495779.1:n.-559-13370C>T
NR_109834.1:n.1120C>T (CCAT2)
NR_117100.1:n.1176+19311G>A (CASC8)
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