Canonical Allele Identifier: CA356454427

Gene: QDPR

Linked Data

• gnomAD v4: 4-17512008-T-C
• MyVariant Identifiers: chr4:g.17513631T>C (hg19) ; chr4:g.17512008T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512008T>C , CM000666.2:g.17512008T>C	GRCh38
NC_000004.11:g.17513631T>C , CM000666.1:g.17513631T>C	GRCh37
NC_000004.10:g.17122729T>C	NCBI36
NG_008763.1:g.5227A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.47A>G MANE Select	ENSP00000281243.5:p.Tyr16Cys
ENST00000281243.9:c.47A>G	ENSP00000281243.5:p.Tyr16Cys
ENST00000428702.6:c.47A>G	ENSP00000390944.2:p.Tyr16Cys
ENST00000507439.5:c.47A>G	ENSP00000423227.1:p.Tyr16Cys
ENST00000508623.5:c.47A>G	ENSP00000426377.1:p.Tyr16Cys
ENST00000513615.5:c.47A>G	ENSP00000422759.1:p.Tyr16Cys
ENST00000514300.1:c.47A>G	ENSP00000426039.1:p.Tyr16Cys
NM_000320.2:c.47A>G	NP_000311.2:p.Tyr16Cys
NM_001306140.1:c.47A>G	NP_001293069.1:p.Tyr16Cys
XR_241677.1:n.210A>G
NR_156494.1:n.227A>G
NM_000320.3:c.47A>G MANE Select	NP_000311.2:p.Tyr16Cys
NM_001306140.2:c.47A>G	NP_001293069.1:p.Tyr16Cys
NR_156494.2:n.83A>G