Canonical Allele Identifier: CA1119022287
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1813951997
gnomAD v3: 8-127328756-C-A
gnomAD v4: 8-127328756-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127328756C>A , CM000670.2:g.127328756C>A GRCh38
NC_000008.10:g.128341001C>A , CM000670.1:g.128341001C>A GRCh37
NC_000008.9:g.128410183C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645438.1:c.-715+6530C>A (POU5F1B) ENSP00000495779.1:n.-715+6530C>A
NR_117099.1:n.302+6530C>A (CASC21)
NR_117100.1:n.1177-38696G>T (CASC8)
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