Canonical Allele Identifier: CA185730413
Gene: POU5F1B HGNC NCBI
CASC21 HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs202033411
gnomAD v2: 8-128355551-T-A
gnomAD v3: 8-127343305-T-A
gnomAD v4: 8-127343305-T-A
MyVariant Identifiers: chr8:g.128355551T>A (hg19) chr8:g.128355551_128355552delinsAA (hg19) chr8:g.127343305T>A (hg38) chr8:g.127343305_127343306delinsAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.127343305T>A , CM000670.2:g.127343305T>A GRCh38
NC_000008.10:g.128355551T>A , CM000670.1:g.128355551T>A GRCh37
NC_000008.9:g.128424733T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000645438.1:c.-560+3870T>A (POU5F1B) ENSP00000495779.1:n.-560+3870T>A
NR_117099.1:n.457+3870T>A (CASC21)
NR_117100.1:n.1177-53245A>T (CASC8)
Search 100 bp 5'
Search 100 bp 3'