Canonical Allele Identifier: CA356454363

Gene: QDPR

Linked Data

• dbSNP Id: rs751786311
• gnomAD v2: 4-17513616-G-A
• gnomAD v4: 4-17511993-G-A
• MyVariant Identifiers: chr4:g.17513616G>A (hg19) ; chr4:g.17511993G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511993G>A , CM000666.2:g.17511993G>A	GRCh38
NC_000004.11:g.17513616G>A , CM000666.1:g.17513616G>A	GRCh37
NC_000004.10:g.17122714G>A	NCBI36
NG_008763.1:g.5242C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281243.10:c.62C>T MANE Select	ENSP00000281243.5:p.Ala21Val
ENST00000281243.9:c.62C>T	ENSP00000281243.5:p.Ala21Val
ENST00000428702.6:c.62C>T	ENSP00000390944.2:p.Ala21Val
ENST00000507439.5:c.62C>T	ENSP00000423227.1:p.Ala21Val
ENST00000508623.5:c.62C>T	ENSP00000426377.1:p.Ala21Val
ENST00000513615.5:c.62C>T	ENSP00000422759.1:p.Ala21Val
ENST00000514300.1:c.62C>T	ENSP00000426039.1:p.Ala21Val
NM_000320.2:c.62C>T	NP_000311.2:p.Ala21Val
NM_001306140.1:c.62C>T	NP_001293069.1:p.Ala21Val
XR_241677.1:n.225C>T
NR_156494.1:n.242C>T
NM_000320.3:c.62C>T MANE Select	NP_000311.2:p.Ala21Val
NM_001306140.2:c.62C>T	NP_001293069.1:p.Ala21Val
NR_156494.2:n.98C>T