Canonical Allele Identifier: CA2670122138

Gene: QDPR

Linked Data

• gnomAD v4: 4-17504333-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504333A>G , CM000666.2:g.17504333A>G	GRCh38
NC_000004.11:g.17505956A>G , CM000666.1:g.17505956A>G	GRCh37
NC_000004.10:g.17115054A>G	NCBI36
NG_008763.1:g.12902T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1342+46T>C
ENST00000281243.10:c.295+46T>C MANE Select	ENSP00000281243.5:n.295+46T>C
ENST00000281243.9:c.295+46T>C	ENSP00000281243.5:n.295+46T>C
ENST00000428702.6:c.202+46T>C	ENSP00000390944.2:n.202+46T>C
ENST00000505710.1:c.222+46T>C
ENST00000507439.5:c.295+46T>C	ENSP00000423227.1:n.295+46T>C
ENST00000508623.5:c.295+46T>C	ENSP00000426377.1:n.295+46T>C
ENST00000513615.5:c.295+46T>C	ENSP00000422759.1:n.295+46T>C
ENST00000514300.1:c.*226+46T>C	ENSP00000426039.1:n.*226+46T>C
NM_000320.2:c.295+46T>C	NP_000311.2:n.295+46T>C
NM_001306140.1:c.202+46T>C	NP_001293069.1:n.202+46T>C
XR_241677.1:n.458+46T>C
NR_156494.1:n.475+46T>C
NM_000320.3:c.295+46T>C MANE Select	NP_000311.2:n.295+46T>C
NM_001306140.2:c.202+46T>C	NP_001293069.1:n.202+46T>C
NR_156494.2:n.331+46T>C