Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA12798121

Gene: POU5F1B HGNC NCBI
CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs7014346

gnomAD v2: 8-128424792-A-G

gnomAD v3: 8-127412547-A-G

gnomAD v4: 8-127412547-A-G

MyVariant Identifiers: chr8:g.128424792A>G (hg19) chr8:g.127412547A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127412547A>G , CM000670.2:g.127412547A>G	GRCh38
NC_000008.10:g.128424792A>G , CM000670.1:g.128424792A>G	GRCh37
NC_000008.9:g.128493974A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000465342.4:c.-559-2341A>G (POU5F1B)	ENSP00000419298.2:n.-559-2341A>G
ENST00000645438.1:c.-559-2341A>G (POU5F1B)	ENSP00000495779.1:n.-559-2341A>G
NR_117100.1:n.1176+8282T>C (CASC8)

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