Canonical Allele Identifier: CA92593247

Gene: QDPR

Linked Data

• dbSNP Id: rs112196667
• gnomAD v2: 4-17493559-A-G
• gnomAD v3: 4-17491936-A-G
• gnomAD v4: 4-17491936-A-G
• MyVariant Identifiers: chr4:g.17493559A>G (hg19) ; chr4:g.17491936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491936A>G , CM000666.2:g.17491936A>G	GRCh38
NC_000004.11:g.17493559A>G , CM000666.1:g.17493559A>G	GRCh37
NC_000004.10:g.17102657A>G	NCBI36
NG_008763.1:g.25299T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+296T>C
ENST00000281243.10:c.545+296T>C MANE Select	ENSP00000281243.5:n.545+296T>C
ENST00000281243.9:c.545+296T>C	ENSP00000281243.5:n.545+296T>C
ENST00000428702.6:c.452+296T>C	ENSP00000390944.2:n.452+296T>C
ENST00000501943.6:n.282+296T>C
ENST00000505710.1:c.364-1191T>C
ENST00000507439.5:c.437-1191T>C	ENSP00000423227.1:n.437-1191T>C
ENST00000508623.5:c.437-4700T>C	ENSP00000426377.1:n.437-4700T>C
ENST00000511609.1:n.277+296T>C
ENST00000513615.5:c.437-1191T>C	ENSP00000422759.1:n.437-1191T>C
ENST00000514300.1:c.*368-1191T>C	ENSP00000426039.1:n.*368-1191T>C
NM_000320.2:c.545+296T>C	NP_000311.2:n.545+296T>C
NM_001306140.1:c.452+296T>C	NP_001293069.1:n.452+296T>C
XR_241677.1:n.600-1191T>C
NR_156494.1:n.617-1191T>C
NM_000320.3:c.545+296T>C MANE Select	NP_000311.2:n.545+296T>C
NM_001306140.2:c.452+296T>C	NP_001293069.1:n.452+296T>C
NR_156494.2:n.473-1191T>C