Canonical Allele Identifier: CA791227083

Gene: QDPR

Linked Data

• dbSNP Id: rs1194022441
• gnomAD v4: 4-17492651-A-G
• MyVariant Identifiers: chr4:g.17494274A>G (hg19) ; chr4:g.17492651A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492651A>G , CM000666.2:g.17492651A>G	GRCh38
NC_000004.11:g.17494274A>G , CM000666.1:g.17494274A>G	GRCh37
NC_000004.10:g.17103372A>G	NCBI36
NG_008763.1:g.24584T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1484-311T>C
ENST00000281243.10:c.437-311T>C MANE Select	ENSP00000281243.5:n.437-311T>C
ENST00000281243.9:c.437-311T>C	ENSP00000281243.5:n.437-311T>C
ENST00000428702.6:c.344-311T>C	ENSP00000390944.2:n.344-311T>C
ENST00000505710.1:c.364-1906T>C
ENST00000507439.5:c.437-1906T>C	ENSP00000423227.1:n.437-1906T>C
ENST00000508623.5:c.437-5415T>C	ENSP00000426377.1:n.437-5415T>C
ENST00000513615.5:c.437-1906T>C	ENSP00000422759.1:n.437-1906T>C
ENST00000514300.1:c.*368-1906T>C	ENSP00000426039.1:n.*368-1906T>C
NM_000320.2:c.437-311T>C	NP_000311.2:n.437-311T>C
NM_001306140.1:c.344-311T>C	NP_001293069.1:n.344-311T>C
XR_241677.1:n.600-1906T>C
NR_156494.1:n.617-1906T>C
NM_000320.3:c.437-311T>C MANE Select	NP_000311.2:n.437-311T>C
NM_001306140.2:c.344-311T>C	NP_001293069.1:n.344-311T>C
NR_156494.2:n.473-1906T>C