Canonical Allele Identifier: CA356454329

Gene: QDPR

Linked Data

• dbSNP Id: rs1193307264
• gnomAD v3: 4-17511975-A-G
• gnomAD v4: 4-17511975-A-G
• MyVariant Identifiers: chr4:g.17513598A>G (hg19) ; chr4:g.17511975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511975A>G , CM000666.2:g.17511975A>G	GRCh38
NC_000004.11:g.17513598A>G , CM000666.1:g.17513598A>G	GRCh37
NC_000004.10:g.17122696A>G	NCBI36
NG_008763.1:g.5260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.80T>C MANE Select	ENSP00000281243.5:p.Val27Ala
ENST00000281243.9:c.80T>C	ENSP00000281243.5:p.Val27Ala
ENST00000428702.6:c.80T>C	ENSP00000390944.2:p.Val27Ala
ENST00000505710.1:c.7T>C
ENST00000507439.5:c.80T>C	ENSP00000423227.1:p.Val27Ala
ENST00000508623.5:c.80T>C	ENSP00000426377.1:p.Val27Ala
ENST00000513615.5:c.80T>C	ENSP00000422759.1:p.Val27Ala
ENST00000514300.1:c.80T>C	ENSP00000426039.1:p.Val27Ala
NM_000320.2:c.80T>C	NP_000311.2:p.Val27Ala
NM_001306140.1:c.80T>C	NP_001293069.1:p.Val27Ala
XR_241677.1:n.243T>C
NR_156494.1:n.260T>C
NM_000320.3:c.80T>C MANE Select	NP_000311.2:p.Val27Ala
NM_001306140.2:c.80T>C	NP_001293069.1:p.Val27Ala
NR_156494.2:n.116T>C