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: CA361622905

Gene: POU4F3 HGNC NCBI

Linked Data

gnomAD v4: 5-146340310-A-G

COSMIC: COSM5905640

MyVariant Identifiers: chr5:g.145719873A>G (hg19) chr5:g.146340310A>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146340310A>G , CM000667.2:g.146340310A>G	GRCh38
NC_000005.9:g.145719873A>G , CM000667.1:g.145719873A>G	GRCh37
NC_000005.8:g.145700066A>G	NCBI36
NG_011885.1:g.6287A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000646991.2:c.883A>G MANE Select	ENSP00000495718.1:p.Ile295Val
ENST00000230732.4:c.883A>G	ENSP00000230732.4:p.Ile295Val
NM_002700.2:c.883A>G	NP_002691.1:p.Ile295Val
NM_002700.3:c.883A>G MANE Select	NP_002691.1:p.Ile295Val

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