Canonical Allele Identifier: CA356454298
Gene: QDPR HGNC NCBI

Linked Data

gnomAD v4: 4-17511960-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511960G>T , CM000666.2:g.17511960G>T GRCh38
NC_000004.11:g.17513583G>T , CM000666.1:g.17513583G>T GRCh37
NC_000004.10:g.17122681G>T NCBI36
NG_008763.1:g.5275C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.95C>A MANE Select ENSP00000281243.5:p.Ala32Asp
ENST00000281243.9:c.95C>A ENSP00000281243.5:p.Ala32Asp
ENST00000428702.6:c.95C>A ENSP00000390944.2:p.Ala32Asp
ENST00000505710.1:c.22C>A
ENST00000507439.5:c.95C>A ENSP00000423227.1:p.Ala32Asp
ENST00000508623.5:c.95C>A ENSP00000426377.1:p.Ala32Asp
ENST00000513615.5:c.95C>A ENSP00000422759.1:p.Ala32Asp
ENST00000514300.1:c.95C>A ENSP00000426039.1:p.Ala32Asp
NM_000320.2:c.95C>A NP_000311.2:p.Ala32Asp
NM_001306140.1:c.95C>A NP_001293069.1:p.Ala32Asp
XR_241677.1:n.258C>A
NR_156494.1:n.275C>A
NM_000320.3:c.95C>A MANE Select NP_000311.2:p.Ala32Asp
NM_001306140.2:c.95C>A NP_001293069.1:p.Ala32Asp
NR_156494.2:n.131C>A