Canonical Allele Identifier: CA2604547514
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs2130558798
gnomAD v3: 8-127343325-A-C
gnomAD v4: 8-127343325-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343325A>C , CM000670.2:g.127343325A>C GRCh38
NC_000008.10:g.128355571A>C , CM000670.1:g.128355571A>C GRCh37
NC_000008.9:g.128424753A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3890A>C (POU5F1B) ENSP00000495779.1:n.-560+3890A>C
NR_117099.1:n.457+3890A>C (CASC21)
NR_117100.1:n.1177-53265T>G (CASC8)
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