Canonical Allele Identifier: CA114324
Gene: QDPR HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.17511987C>T
GRCh37 chr4:g.17513610C>T
Revel Score:
ENST00000513615 0.961
ENST00000281243 (MANE Select) 0.961
ENST00000428702 0.961
ENST00000508623 0.961
gnomAD v3:
4:17511987 C / T
gnomAD v4:
chr4-17511987-C-T
Joint Max Group AF 0.00001805 (NFE)
Exomes Max Group AF 0.00001831 (NFE)
ClinVar RCV:
RCV000000519
RCV003153240
ClinVar Variation:
490
dbSNP:
104893863
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511987C>T , CM000666.2:g.17511987C>T GRCh38
NC_000004.11:g.17513610C>T , CM000666.1:g.17513610C>T GRCh37
NC_000004.10:g.17122708C>T NCBI36
NG_008763.1:g.5248G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.68G>A MANE Select ENSP00000281243.5:p.Gly23Asp
ENST00000281243.9:c.68G>A ENSP00000281243.5:p.Gly23Asp
ENST00000428702.6:c.68G>A ENSP00000390944.2:p.Gly23Asp
ENST00000507439.5:c.68G>A ENSP00000423227.1:p.Gly23Asp
ENST00000508623.5:c.68G>A ENSP00000426377.1:p.Gly23Asp
ENST00000513615.5:c.68G>A ENSP00000422759.1:p.Gly23Asp
ENST00000514300.1:c.68G>A ENSP00000426039.1:p.Gly23Asp
NM_000320.2:c.68G>A NP_000311.2:p.Gly23Asp
NM_001306140.1:c.68G>A NP_001293069.1:p.Gly23Asp
XR_241677.1:n.231G>A
NR_156494.1:n.248G>A
NM_000320.3:c.68G>A MANE Select NP_000311.2:p.Gly23Asp
NM_001306140.2:c.68G>A NP_001293069.1:p.Gly23Asp
NR_156494.2:n.104G>A
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