Canonical Allele Identifier: CA2670126267
Gene: QDPR HGNC NCBI

Linked Data

gnomAD v4: 4-17511891-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511891C>T , CM000666.2:g.17511891C>T GRCh38
NC_000004.11:g.17513514C>T , CM000666.1:g.17513514C>T GRCh37
NC_000004.10:g.17122612C>T NCBI36
NG_008763.1:g.5344G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000281243.10:c.105+59G>A MANE Select ENSP00000281243.5:n.105+59G>A
ENST00000281243.9:c.105+59G>A ENSP00000281243.5:n.105+59G>A
ENST00000428702.6:c.105+59G>A ENSP00000390944.2:n.105+59G>A
ENST00000505710.1:c.32+59G>A
ENST00000507439.5:c.105+59G>A ENSP00000423227.1:n.105+59G>A
ENST00000508623.5:c.105+59G>A ENSP00000426377.1:n.105+59G>A
ENST00000513615.5:c.105+59G>A ENSP00000422759.1:n.105+59G>A
ENST00000514300.1:c.105+59G>A ENSP00000426039.1:n.105+59G>A
NM_000320.2:c.105+59G>A NP_000311.2:n.105+59G>A
NM_001306140.1:c.105+59G>A NP_001293069.1:n.105+59G>A
XR_241677.1:n.268+59G>A
NR_156494.1:n.285+59G>A
NM_000320.3:c.105+59G>A MANE Select NP_000311.2:n.105+59G>A
NM_001306140.2:c.105+59G>A NP_001293069.1:n.105+59G>A
NR_156494.2:n.141+59G>A