Canonical Allele Identifier: CA791234156

Gene: QDPR

Linked Data

• dbSNP Id: rs1461101490
• gnomAD v4: 4-17504236-T-A
• MyVariant Identifiers: chr4:g.17505859T>A (hg19) ; chr4:g.17504236T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504236T>A , CM000666.2:g.17504236T>A	GRCh38
NC_000004.11:g.17505859T>A , CM000666.1:g.17505859T>A	GRCh37
NC_000004.10:g.17114957T>A	NCBI36
NG_008763.1:g.12999A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1342+143A>T
ENST00000281243.10:c.295+143A>T MANE Select	ENSP00000281243.5:n.295+143A>T
ENST00000281243.9:c.295+143A>T	ENSP00000281243.5:n.295+143A>T
ENST00000428702.6:c.202+143A>T	ENSP00000390944.2:n.202+143A>T
ENST00000505710.1:c.222+143A>T
ENST00000507439.5:c.295+143A>T	ENSP00000423227.1:n.295+143A>T
ENST00000508623.5:c.295+143A>T	ENSP00000426377.1:n.295+143A>T
ENST00000513615.5:c.295+143A>T	ENSP00000422759.1:n.295+143A>T
ENST00000514300.1:c.*226+143A>T	ENSP00000426039.1:n.*226+143A>T
NM_000320.2:c.295+143A>T	NP_000311.2:n.295+143A>T
NM_001306140.1:c.202+143A>T	NP_001293069.1:n.202+143A>T
XR_241677.1:n.458+143A>T
NR_156494.1:n.475+143A>T
NM_000320.3:c.295+143A>T MANE Select	NP_000311.2:n.295+143A>T
NM_001306140.2:c.202+143A>T	NP_001293069.1:n.202+143A>T
NR_156494.2:n.331+143A>T