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: CA114327

Gene: QDPR HGNC NCBI

Linked Data

ClinVar Variation Id: 494

ClinVar RCV Id: RCV000000523 RCV001558625

dbSNP Id: rs104893866

gnomAD v4: 4-17492328-T-C

MyVariant Identifiers: chr4:g.17493951T>C (hg19) chr4:g.17492328T>C (hg38)

PubMed: PMID:9744478

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492328T>C , CM000666.2:g.17492328T>C	GRCh38
NC_000004.11:g.17493951T>C , CM000666.1:g.17493951T>C	GRCh37
NC_000004.10:g.17103049T>C	NCBI36
NG_008763.1:g.24907A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1496A>G
ENST00000281243.10:c.449A>G MANE Select	ENSP00000281243.5:p.Tyr150Cys
ENST00000281243.9:c.449A>G	ENSP00000281243.5:p.Tyr150Cys
ENST00000428702.6:c.356A>G	ENSP00000390944.2:p.Tyr119Cys
ENST00000501943.6:n.186A>G
ENST00000505710.1:c.364-1583A>G
ENST00000507439.5:c.437-1583A>G	ENSP00000423227.1:n.437-1583A>G
ENST00000508623.5:c.437-5092A>G	ENSP00000426377.1:n.437-5092A>G
ENST00000511609.1:n.181A>G
ENST00000513615.5:c.437-1583A>G	ENSP00000422759.1:n.437-1583A>G
ENST00000514300.1:c.*368-1583A>G	ENSP00000426039.1:n.*368-1583A>G
NM_000320.2:c.449A>G	NP_000311.2:p.Tyr150Cys
NM_001306140.1:c.356A>G	NP_001293069.1:p.Tyr119Cys
XR_241677.1:n.600-1583A>G
NR_156494.1:n.617-1583A>G
NM_000320.3:c.449A>G MANE Select	NP_000311.2:p.Tyr150Cys
NM_001306140.2:c.356A>G	NP_001293069.1:p.Tyr119Cys
NR_156494.2:n.473-1583A>G