Canonical Allele Identifier: CA356454308

Gene: QDPR

Linked Data

• MyVariant Identifiers: chr4:g.17513589A>C (hg19) ; chr4:g.17511966A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511966A>C , CM000666.2:g.17511966A>C	GRCh38
NC_000004.11:g.17513589A>C , CM000666.1:g.17513589A>C	GRCh37
NC_000004.10:g.17122687A>C	NCBI36
NG_008763.1:g.5269T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.89T>G MANE Select	ENSP00000281243.5:p.Phe30Cys
ENST00000281243.9:c.89T>G	ENSP00000281243.5:p.Phe30Cys
ENST00000428702.6:c.89T>G	ENSP00000390944.2:p.Phe30Cys
ENST00000505710.1:c.16T>G
ENST00000507439.5:c.89T>G	ENSP00000423227.1:p.Phe30Cys
ENST00000508623.5:c.89T>G	ENSP00000426377.1:p.Phe30Cys
ENST00000513615.5:c.89T>G	ENSP00000422759.1:p.Phe30Cys
ENST00000514300.1:c.89T>G	ENSP00000426039.1:p.Phe30Cys
NM_000320.2:c.89T>G	NP_000311.2:p.Phe30Cys
NM_001306140.1:c.89T>G	NP_001293069.1:p.Phe30Cys
XR_241677.1:n.252T>G
NR_156494.1:n.269T>G
NM_000320.3:c.89T>G MANE Select	NP_000311.2:p.Phe30Cys
NM_001306140.2:c.89T>G	NP_001293069.1:p.Phe30Cys
NR_156494.2:n.125T>G