Canonical Allele Identifier: CA2760590174
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492647A>T , CM000666.2:g.17492647A>T GRCh38
NC_000004.11:g.17494270A>T , CM000666.1:g.17494270A>T GRCh37
NC_000004.10:g.17103368A>T NCBI36
NG_008763.1:g.24588T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-307T>A
ENST00000281243.10:c.437-307T>A MANE Select ENSP00000281243.5:n.437-307T>A
ENST00000281243.9:c.437-307T>A ENSP00000281243.5:n.437-307T>A
ENST00000428702.6:c.344-307T>A ENSP00000390944.2:n.344-307T>A
ENST00000505710.1:c.364-1902T>A
ENST00000507439.5:c.437-1902T>A ENSP00000423227.1:n.437-1902T>A
ENST00000508623.5:c.437-5411T>A ENSP00000426377.1:n.437-5411T>A
ENST00000513615.5:c.437-1902T>A ENSP00000422759.1:n.437-1902T>A
ENST00000514300.1:c.*368-1902T>A ENSP00000426039.1:n.*368-1902T>A
NM_000320.2:c.437-307T>A NP_000311.2:n.437-307T>A
NM_001306140.1:c.344-307T>A NP_001293069.1:n.344-307T>A
XR_241677.1:n.600-1902T>A
NR_156494.1:n.617-1902T>A
NM_000320.3:c.437-307T>A MANE Select NP_000311.2:n.437-307T>A
NM_001306140.2:c.344-307T>A NP_001293069.1:n.344-307T>A
NR_156494.2:n.473-1902T>A