Canonical Allele Identifier: CA356454349
Gene: QDPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511985A>G , CM000666.2:g.17511985A>G GRCh38
NC_000004.11:g.17513608A>G , CM000666.1:g.17513608A>G GRCh37
NC_000004.10:g.17122706A>G NCBI36
NG_008763.1:g.5250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.70T>C MANE Select ENSP00000281243.5:p.Ser24Pro
ENST00000281243.9:c.70T>C ENSP00000281243.5:p.Ser24Pro
ENST00000428702.6:c.70T>C ENSP00000390944.2:p.Ser24Pro
ENST00000507439.5:c.70T>C ENSP00000423227.1:p.Ser24Pro
ENST00000508623.5:c.70T>C ENSP00000426377.1:p.Ser24Pro
ENST00000513615.5:c.70T>C ENSP00000422759.1:p.Ser24Pro
ENST00000514300.1:c.70T>C ENSP00000426039.1:p.Ser24Pro
NM_000320.2:c.70T>C NP_000311.2:p.Ser24Pro
NM_001306140.1:c.70T>C NP_001293069.1:p.Ser24Pro
XR_241677.1:n.233T>C
NR_156494.1:n.250T>C
NM_000320.3:c.70T>C MANE Select NP_000311.2:p.Ser24Pro
NM_001306140.2:c.70T>C NP_001293069.1:p.Ser24Pro
NR_156494.2:n.106T>C