Canonical Allele Identifier: CA356454339

Gene: QDPR

Linked Data

• gnomAD v4: 4-17511979-A-G
• MyVariant Identifiers: chr4:g.17513602A>G (hg19) ; chr4:g.17511979A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511979A>G , CM000666.2:g.17511979A>G	GRCh38
NC_000004.11:g.17513602A>G , CM000666.1:g.17513602A>G	GRCh37
NC_000004.10:g.17122700A>G	NCBI36
NG_008763.1:g.5256T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.76T>C MANE Select	ENSP00000281243.5:p.Cys26Arg
ENST00000281243.9:c.76T>C	ENSP00000281243.5:p.Cys26Arg
ENST00000428702.6:c.76T>C	ENSP00000390944.2:p.Cys26Arg
ENST00000505710.1:c.3T>C
ENST00000507439.5:c.76T>C	ENSP00000423227.1:p.Cys26Arg
ENST00000508623.5:c.76T>C	ENSP00000426377.1:p.Cys26Arg
ENST00000513615.5:c.76T>C	ENSP00000422759.1:p.Cys26Arg
ENST00000514300.1:c.76T>C	ENSP00000426039.1:p.Cys26Arg
NM_000320.2:c.76T>C	NP_000311.2:p.Cys26Arg
NM_001306140.1:c.76T>C	NP_001293069.1:p.Cys26Arg
XR_241677.1:n.239T>C
NR_156494.1:n.256T>C
NM_000320.3:c.76T>C MANE Select	NP_000311.2:p.Cys26Arg
NM_001306140.2:c.76T>C	NP_001293069.1:p.Cys26Arg
NR_156494.2:n.112T>C