Canonical Allele Identifier: CA92600215
Community Standard Title: NM_000320.3(QDPR):c.296-69T>C
Gene: QDPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17501928A>G , CM000666.2:g.17501928A>G GRCh38
NC_000004.11:g.17503551A>G , CM000666.1:g.17503551A>G GRCh37
NC_000004.10:g.17112649A>G NCBI36
NG_008763.1:g.15307T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000320.3:c.296-69T>C MANE Select NP_000311.2:n.296-69T>C
ENST00000281243.10:c.296-69T>C MANE Select ENSP00000281243.5:n.296-69T>C
NM_000320.2:c.296-69T>C NP_000311.2:n.296-69T>C
NM_001306140.1:c.203-69T>C NP_001293069.1:n.203-69T>C
NM_001306140.2:c.203-69T>C NP_001293069.1:n.203-69T>C
NR_156494.1:n.476-69T>C
NR_156494.2:n.332-69T>C
ENST00000281243.9:c.296-69T>C ENSP00000281243.5:n.296-69T>C
ENST00000428702.6:c.203-69T>C ENSP00000390944.2:n.203-69T>C
ENST00000505710.1:c.223-69T>C
ENST00000507439.5:c.296-69T>C ENSP00000423227.1:n.296-69T>C
ENST00000508623.5:c.296-69T>C ENSP00000426377.1:n.296-69T>C
ENST00000513615.5:c.296-69T>C ENSP00000422759.1:n.296-69T>C
ENST00000514300.1:c.*227-69T>C ENSP00000426039.1:n.*227-69T>C
ENST00000706645.1:n.1343-69T>C
XR_241677.1:n.459-69T>C