Canonical Allele Identifier: CA356454392

Gene: QDPR

Linked Data

• gnomAD v4: 4-17512000-T-C
• MyVariant Identifiers: chr4:g.17513623T>C (hg19) ; chr4:g.17512000T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17512000T>C , CM000666.2:g.17512000T>C	GRCh38
NC_000004.11:g.17513623T>C , CM000666.1:g.17513623T>C	GRCh37
NC_000004.10:g.17122721T>C	NCBI36
NG_008763.1:g.5235A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281243.10:c.55A>G MANE Select	ENSP00000281243.5:p.Arg19Gly
ENST00000281243.9:c.55A>G	ENSP00000281243.5:p.Arg19Gly
ENST00000428702.6:c.55A>G	ENSP00000390944.2:p.Arg19Gly
ENST00000507439.5:c.55A>G	ENSP00000423227.1:p.Arg19Gly
ENST00000508623.5:c.55A>G	ENSP00000426377.1:p.Arg19Gly
ENST00000513615.5:c.55A>G	ENSP00000422759.1:p.Arg19Gly
ENST00000514300.1:c.55A>G	ENSP00000426039.1:p.Arg19Gly
NM_000320.2:c.55A>G	NP_000311.2:p.Arg19Gly
NM_001306140.1:c.55A>G	NP_001293069.1:p.Arg19Gly
XR_241677.1:n.218A>G
NR_156494.1:n.235A>G
NM_000320.3:c.55A>G MANE Select	NP_000311.2:p.Arg19Gly
NM_001306140.2:c.55A>G	NP_001293069.1:p.Arg19Gly
NR_156494.2:n.91A>G