Canonical Allele Identifier: CA438716060
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs1719030671
MyVariant Identifiers: chr4:g.17513615A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511992A>G , CM000666.2:g.17511992A>G GRCh38
NC_000004.11:g.17513615A>G , CM000666.1:g.17513615A>G GRCh37
NC_000004.10:g.17122713A>G NCBI36
NG_008763.1:g.5243T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000281243.10:c.63T>C MANE Select ENSP00000281243.5:p.Ala21=
ENST00000281243.9:c.63T>C ENSP00000281243.5:p.Ala21=
ENST00000428702.6:c.63T>C ENSP00000390944.2:p.Ala21=
ENST00000507439.5:c.63T>C ENSP00000423227.1:p.Ala21=
ENST00000508623.5:c.63T>C ENSP00000426377.1:p.Ala21=
ENST00000513615.5:c.63T>C ENSP00000422759.1:p.Ala21=
ENST00000514300.1:c.63T>C ENSP00000426039.1:p.Ala21=
NM_000320.2:c.63T>C NP_000311.2:p.Ala21=
NM_001306140.1:c.63T>C NP_001293069.1:p.Ala21=
XR_241677.1:n.226T>C
NR_156494.1:n.243T>C
NM_000320.3:c.63T>C MANE Select NP_000311.2:p.Ala21=
NM_001306140.2:c.63T>C NP_001293069.1:p.Ala21=
NR_156494.2:n.99T>C