Canonical Allele Identifier: CA114326
Gene: QDPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 492
ClinVar RCV Id: RCV000000521
dbSNP Id: rs104893865

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17509363A>G , CM000666.2:g.17509363A>G GRCh38
NC_000004.11:g.17510986A>G , CM000666.1:g.17510986A>G GRCh37
NC_000004.10:g.17120084A>G NCBI36
NG_008763.1:g.7872T>C

Transcript Alleles

HGVS Amino-acid change
NM_000320.2:c.106T>C VV NP_000311.2:p.Trp36Arg
NM_001306140.1:c.105+2587T>C VV NP_001293069.1:p.=
XR_241677.1:n.269T>C
NR_156494.1:n.286T>C
NM_000320.3:c.106T>C VV MANE Preferred
ENST00000281243.9:c.106T>C ENSP00000281243.5:p.Trp36Arg
ENST00000428702.6:c.105+2587T>C ENSP00000390944.2:p.=
ENST00000505710.1:n.33T>C
ENST00000507439.5:c.106T>C ENSP00000423227.1:p.Trp36Arg
ENST00000508623.5:c.106T>C ENSP00000426377.1:p.Trp36Arg
ENST00000513615.5:c.106T>C ENSP00000422759.1:p.Trp36Arg
ENST00000514300.1:c.*37T>C ENSP00000426039.1:p.=