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.

ClinGen Allele Registry

Canonical Allele Identifier: CA271463

Gene: EBP HGNC NCBI

Linked Data

ClinVar Variation Id: 158541

ClinVar RCV Id: RCV000145933

dbSNP Id: rs587783609

MyVariant Identifiers: chrX:g.48385385T>C (hg19) chrX:g.48526997T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48526997T>C , CM000685.2:g.48526997T>C	GRCh38
NC_000023.10:g.48385385T>C , CM000685.1:g.48385385T>C	GRCh37
NC_000023.9:g.48270329T>C	NCBI36
NG_007452.1:g.10222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000495186.6:c.310T>C MANE Select	ENSP00000417052.1:p.Tyr104His
ENST00000651615.1:c.310T>C	ENSP00000498524.1:p.Tyr104His
ENST00000276096.10:n.268T>C
ENST00000414061.1:c.310T>C	ENSP00000405832.1:p.Tyr104His
ENST00000446158.5:c.310T>C	ENSP00000390031.1:p.Tyr104His
ENST00000466461.1:n.149T>C
ENST00000495186.5:c.310T>C	ENSP00000417052.1:p.Tyr104His
ENST00000498425.1:n.431T>C
NM_006579.2:c.310T>C	NP_006570.1:p.Tyr104His
NM_006579.3:c.310T>C MANE Select	NP_006570.1:p.Tyr104His