Canonical Allele Identifier: CA2697557084

Gene: QDPR

Linked Data

• ClinVar Variation Id: 2750783
• ClinVar RCV Id: RCV003495681

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511930G>C , CM000666.2:g.17511930G>C	GRCh38
NC_000004.11:g.17513553G>C , CM000666.1:g.17513553G>C	GRCh37
NC_000004.10:g.17122651G>C	NCBI36
NG_008763.1:g.5305C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105+20C>G MANE Select	ENSP00000281243.5:n.105+20C>G
ENST00000281243.9:c.105+20C>G	ENSP00000281243.5:n.105+20C>G
ENST00000428702.6:c.105+20C>G	ENSP00000390944.2:n.105+20C>G
ENST00000505710.1:c.32+20C>G
ENST00000507439.5:c.105+20C>G	ENSP00000423227.1:n.105+20C>G
ENST00000508623.5:c.105+20C>G	ENSP00000426377.1:n.105+20C>G
ENST00000513615.5:c.105+20C>G	ENSP00000422759.1:n.105+20C>G
ENST00000514300.1:c.105+20C>G	ENSP00000426039.1:n.105+20C>G
NM_000320.2:c.105+20C>G	NP_000311.2:n.105+20C>G
NM_001306140.1:c.105+20C>G	NP_001293069.1:n.105+20C>G
XR_241677.1:n.268+20C>G
NR_156494.1:n.285+20C>G
NM_000320.3:c.105+20C>G MANE Select	NP_000311.2:n.105+20C>G
NM_001306140.2:c.105+20C>G	NP_001293069.1:n.105+20C>G
NR_156494.2:n.141+20C>G