Canonical Allele Identifier: CA356454292

Gene: QDPR

Linked Data

• dbSNP Id: rs1719028102
• gnomAD v4: 4-17511957-C-T
• MyVariant Identifiers: chr4:g.17513580C>T (hg19) ; chr4:g.17511957C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511957C>T , CM000666.2:g.17511957C>T	GRCh38
NC_000004.11:g.17513580C>T , CM000666.1:g.17513580C>T	GRCh37
NC_000004.10:g.17122678C>T	NCBI36
NG_008763.1:g.5278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.98G>A MANE Select	ENSP00000281243.5:p.Arg33His
ENST00000281243.9:c.98G>A	ENSP00000281243.5:p.Arg33His
ENST00000428702.6:c.98G>A	ENSP00000390944.2:p.Arg33His
ENST00000505710.1:c.25G>A
ENST00000507439.5:c.98G>A	ENSP00000423227.1:p.Arg33His
ENST00000508623.5:c.98G>A	ENSP00000426377.1:p.Arg33His
ENST00000513615.5:c.98G>A	ENSP00000422759.1:p.Arg33His
ENST00000514300.1:c.98G>A	ENSP00000426039.1:p.Arg33His
NM_000320.2:c.98G>A	NP_000311.2:p.Arg33His
NM_001306140.1:c.98G>A	NP_001293069.1:p.Arg33His
XR_241677.1:n.261G>A
NR_156494.1:n.278G>A
NM_000320.3:c.98G>A MANE Select	NP_000311.2:p.Arg33His
NM_001306140.2:c.98G>A	NP_001293069.1:p.Arg33His
NR_156494.2:n.134G>A