Canonical Allele Identifier: CA2670124675
Gene: QDPR HGNC NCBI

Linked Data

gnomAD v4: 4-17492630-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492630T>A , CM000666.2:g.17492630T>A GRCh38
NC_000004.11:g.17494253T>A , CM000666.1:g.17494253T>A GRCh37
NC_000004.10:g.17103351T>A NCBI36
NG_008763.1:g.24605A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-290A>T
ENST00000281243.10:c.437-290A>T MANE Select ENSP00000281243.5:n.437-290A>T
ENST00000281243.9:c.437-290A>T ENSP00000281243.5:n.437-290A>T
ENST00000428702.6:c.344-290A>T ENSP00000390944.2:n.344-290A>T
ENST00000505710.1:c.364-1885A>T
ENST00000507439.5:c.437-1885A>T ENSP00000423227.1:n.437-1885A>T
ENST00000508623.5:c.437-5394A>T ENSP00000426377.1:n.437-5394A>T
ENST00000513615.5:c.437-1885A>T ENSP00000422759.1:n.437-1885A>T
ENST00000514300.1:c.*368-1885A>T ENSP00000426039.1:n.*368-1885A>T
NM_000320.2:c.437-290A>T NP_000311.2:n.437-290A>T
NM_001306140.1:c.344-290A>T NP_001293069.1:n.344-290A>T
XR_241677.1:n.600-1885A>T
NR_156494.1:n.617-1885A>T
NM_000320.3:c.437-290A>T MANE Select NP_000311.2:n.437-290A>T
NM_001306140.2:c.344-290A>T NP_001293069.1:n.344-290A>T
NR_156494.2:n.473-1885A>T