Canonical Allele Identifier: CA2579837684
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

gnomAD v4: 8-127400830-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400830T>C , CM000670.2:g.127400830T>C GRCh38
NC_000008.10:g.128413075T>C , CM000670.1:g.128413075T>C GRCh37
NC_000008.9:g.128482257T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-14058T>C (POU5F1B) ENSP00000495779.1:n.-559-14058T>C
NR_109834.1:n.432T>C (CCAT2)
NR_117100.1:n.1176+19999A>G (CASC8)
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