Canonical Allele Identifier: CA2868237

Gene: QDPR

Linked Data

• dbSNP Id: rs780351233
• ExAC: 4:17513545 A / C
• gnomAD v2: 4-17513545-A-C
• gnomAD v4: 4-17511922-A-C
• MyVariant Identifiers: chr4:g.17513545A>C (hg19) ; chr4:g.17511922A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17511922A>C , CM000666.2:g.17511922A>C	GRCh38
NC_000004.11:g.17513545A>C , CM000666.1:g.17513545A>C	GRCh37
NC_000004.10:g.17122643A>C	NCBI36
NG_008763.1:g.5313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281243.10:c.105+28T>G MANE Select	ENSP00000281243.5:n.105+28T>G
ENST00000281243.9:c.105+28T>G	ENSP00000281243.5:n.105+28T>G
ENST00000428702.6:c.105+28T>G	ENSP00000390944.2:n.105+28T>G
ENST00000505710.1:c.32+28T>G
ENST00000507439.5:c.105+28T>G	ENSP00000423227.1:n.105+28T>G
ENST00000508623.5:c.105+28T>G	ENSP00000426377.1:n.105+28T>G
ENST00000513615.5:c.105+28T>G	ENSP00000422759.1:n.105+28T>G
ENST00000514300.1:c.105+28T>G	ENSP00000426039.1:n.105+28T>G
NM_000320.2:c.105+28T>G	NP_000311.2:n.105+28T>G
NM_001306140.1:c.105+28T>G	NP_001293069.1:n.105+28T>G
XR_241677.1:n.268+28T>G
NR_156494.1:n.285+28T>G
NM_000320.3:c.105+28T>G MANE Select	NP_000311.2:n.105+28T>G
NM_001306140.2:c.105+28T>G	NP_001293069.1:n.105+28T>G
NR_156494.2:n.141+28T>G