Canonical Allele Identifier: CA585068460
Gene: POU5F1B HGNC NCBI
CCAT2 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1397522954
gnomAD v2: 8-128413063-T-A
gnomAD v3: 8-127400818-T-A
gnomAD v4: 8-127400818-T-A
MyVariant Identifiers: chr8:g.128413063T>A (hg19) chr8:g.127400818T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127400818T>A , CM000670.2:g.127400818T>A GRCh38
NC_000008.10:g.128413063T>A , CM000670.1:g.128413063T>A GRCh37
NC_000008.9:g.128482245T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-559-14070T>A (POU5F1B) ENSP00000495779.1:n.-559-14070T>A
NR_109834.1:n.420T>A (CCAT2)
NR_117100.1:n.1176+20011A>T (CASC8)
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