Canonical Allele Identifier: CA2868244
Gene: QDPR HGNC NCBI

Linked Data

ClinVar Variation Id: 286391
dbSNP Id: rs2518608
gnomAD v2: 4-17513582-G-A
gnomAD v3: 4-17511959-G-A
gnomAD v4: 4-17511959-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511959G>A , CM000666.2:g.17511959G>A GRCh38
NC_000004.11:g.17513582G>A , CM000666.1:g.17513582G>A GRCh37
NC_000004.10:g.17122680G>A NCBI36
NG_008763.1:g.5276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.96C>T MANE Select ENSP00000281243.5:p.Ala32=
ENST00000281243.9:c.96C>T ENSP00000281243.5:p.Ala32=
ENST00000428702.6:c.96C>T ENSP00000390944.2:p.Ala32=
ENST00000505710.1:c.23C>T
ENST00000507439.5:c.96C>T ENSP00000423227.1:p.Ala32=
ENST00000508623.5:c.96C>T ENSP00000426377.1:p.Ala32=
ENST00000513615.5:c.96C>T ENSP00000422759.1:p.Ala32=
ENST00000514300.1:c.96C>T ENSP00000426039.1:p.Ala32=
NM_000320.2:c.96C>T NP_000311.2:p.Ala32=
NM_001306140.1:c.96C>T NP_001293069.1:p.Ala32=
XR_241677.1:n.259C>T
NR_156494.1:n.276C>T
NM_000320.3:c.96C>T MANE Select NP_000311.2:p.Ala32=
NM_001306140.2:c.96C>T NP_001293069.1:p.Ala32=
NR_156494.2:n.132C>T