Canonical Allele Identifier: CA356450393

Gene: QDPR

Linked Data

• gnomAD v4: 4-17504421-A-G
• MyVariant Identifiers: chr4:g.17506044A>G (hg19) ; chr4:g.17504421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17504421A>G , CM000666.2:g.17504421A>G	GRCh38
NC_000004.11:g.17506044A>G , CM000666.1:g.17506044A>G	GRCh37
NC_000004.10:g.17115142A>G	NCBI36
NG_008763.1:g.12814T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706645.1:n.1300T>C
ENST00000281243.10:c.253T>C MANE Select	ENSP00000281243.5:p.Cys85Arg
ENST00000281243.9:c.253T>C	ENSP00000281243.5:p.Cys85Arg
ENST00000428702.6:c.160T>C	ENSP00000390944.2:p.Cys54Arg
ENST00000505710.1:c.180T>C
ENST00000507439.5:c.253T>C	ENSP00000423227.1:p.Cys85Arg
ENST00000508623.5:c.253T>C	ENSP00000426377.1:p.Cys85Arg
ENST00000513615.5:c.253T>C	ENSP00000422759.1:p.Cys85Arg
ENST00000514300.1:c.*184T>C	ENSP00000426039.1:n.*184T>C
NM_000320.2:c.253T>C	NP_000311.2:p.Cys85Arg
NM_001306140.1:c.160T>C	NP_001293069.1:p.Cys54Arg
XR_241677.1:n.416T>C
NR_156494.1:n.433T>C
NM_000320.3:c.253T>C MANE Select	NP_000311.2:p.Cys85Arg
NM_001306140.2:c.160T>C	NP_001293069.1:p.Cys54Arg
NR_156494.2:n.289T>C