Canonical Allele Identifier: CA114324

Gene: QDPR

Linked Data

• ClinVar Variation Id: 490
• ClinVar RCV Id: RCV000000519 ; RCV003153240
• dbSNP Id: rs104893863
• gnomAD v3: 4-17511987-C-T
• gnomAD v4: 4-17511987-C-T
• MyVariant Identifiers: chr4:g.17513610C>T (hg19) ; chr4:g.17511987C>T (hg38)
• PubMed: PMID:8326489

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