Canonical Allele Identifier: CA2579837653
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

gnomAD v4: 8-127401034-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127401034C>A , CM000670.2:g.127401034C>A GRCh38
NC_000008.10:g.128413279C>A , CM000670.1:g.128413279C>A GRCh37
NC_000008.9:g.128482461C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-559-13854C>A (POU5F1B) ENSP00000495779.1:n.-559-13854C>A
NR_109834.1:n.636C>A (CCAT2)
NR_117100.1:n.1176+19795G>T (CASC8)
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