Canonical Allele Identifier: CA2760590685
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511929A>G , CM000666.2:g.17511929A>G GRCh38
NC_000004.11:g.17513552A>G , CM000666.1:g.17513552A>G GRCh37
NC_000004.10:g.17122650A>G NCBI36
NG_008763.1:g.5306T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.105+21T>C MANE Select ENSP00000281243.5:n.105+21T>C
ENST00000281243.9:c.105+21T>C ENSP00000281243.5:n.105+21T>C
ENST00000428702.6:c.105+21T>C ENSP00000390944.2:n.105+21T>C
ENST00000505710.1:c.32+21T>C
ENST00000507439.5:c.105+21T>C ENSP00000423227.1:n.105+21T>C
ENST00000508623.5:c.105+21T>C ENSP00000426377.1:n.105+21T>C
ENST00000513615.5:c.105+21T>C ENSP00000422759.1:n.105+21T>C
ENST00000514300.1:c.105+21T>C ENSP00000426039.1:n.105+21T>C
NM_000320.2:c.105+21T>C NP_000311.2:n.105+21T>C
NM_001306140.1:c.105+21T>C NP_001293069.1:n.105+21T>C
XR_241677.1:n.268+21T>C
NR_156494.1:n.285+21T>C
NM_000320.3:c.105+21T>C MANE Select NP_000311.2:n.105+21T>C
NM_001306140.2:c.105+21T>C NP_001293069.1:n.105+21T>C
NR_156494.2:n.141+21T>C