Canonical Allele Identifier: CA356454442
Gene: QDPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17512012C>A , CM000666.2:g.17512012C>A GRCh38
NC_000004.11:g.17513635C>A , CM000666.1:g.17513635C>A GRCh37
NC_000004.10:g.17122733C>A NCBI36
NG_008763.1:g.5223G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.43G>T MANE Select ENSP00000281243.5:p.Val15Leu
ENST00000281243.9:c.43G>T ENSP00000281243.5:p.Val15Leu
ENST00000428702.6:c.43G>T ENSP00000390944.2:p.Val15Leu
ENST00000507439.5:c.43G>T ENSP00000423227.1:p.Val15Leu
ENST00000508623.5:c.43G>T ENSP00000426377.1:p.Val15Leu
ENST00000513615.5:c.43G>T ENSP00000422759.1:p.Val15Leu
ENST00000514300.1:c.43G>T ENSP00000426039.1:p.Val15Leu
NM_000320.2:c.43G>T NP_000311.2:p.Val15Leu
NM_001306140.1:c.43G>T NP_001293069.1:p.Val15Leu
XR_241677.1:n.206G>T
NR_156494.1:n.223G>T
NM_000320.3:c.43G>T MANE Select NP_000311.2:p.Val15Leu
NM_001306140.2:c.43G>T NP_001293069.1:p.Val15Leu
NR_156494.2:n.79G>T