Canonical Allele Identifier: CA356450319
Gene: QDPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17504409C>A , CM000666.2:g.17504409C>A GRCh38
NC_000004.11:g.17506032C>A , CM000666.1:g.17506032C>A GRCh37
NC_000004.10:g.17115130C>A NCBI36
NG_008763.1:g.12826G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706645.1:n.1312G>T
ENST00000281243.10:c.265G>T MANE Select ENSP00000281243.5:p.Gly89Ter
ENST00000281243.9:c.265G>T ENSP00000281243.5:p.Gly89Ter
ENST00000428702.6:c.172G>T ENSP00000390944.2:p.Gly58Ter
ENST00000505710.1:c.192G>T
ENST00000507439.5:c.265G>T ENSP00000423227.1:p.Gly89Ter
ENST00000508623.5:c.265G>T ENSP00000426377.1:p.Gly89Ter
ENST00000513615.5:c.265G>T ENSP00000422759.1:p.Gly89Ter
ENST00000514300.1:c.*196G>T ENSP00000426039.1:n.*196G>T
NM_000320.2:c.265G>T NP_000311.2:p.Gly89Ter
NM_001306140.1:c.172G>T NP_001293069.1:p.Gly58Ter
XR_241677.1:n.428G>T
NR_156494.1:n.445G>T
NM_000320.3:c.265G>T MANE Select NP_000311.2:p.Gly89Ter
NM_001306140.2:c.172G>T NP_001293069.1:p.Gly58Ter
NR_156494.2:n.301G>T