Canonical Allele Identifier: CA92593254

Gene: QDPR

Linked Data

• dbSNP Id: rs559907174
• gnomAD v3: 4-17491944-T-C
• gnomAD v4: 4-17491944-T-C
• MyVariant Identifiers: chr4:g.17493567T>C (hg19) ; chr4:g.17491944T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491944T>C , CM000666.2:g.17491944T>C	GRCh38
NC_000004.11:g.17493567T>C , CM000666.1:g.17493567T>C	GRCh37
NC_000004.10:g.17102665T>C	NCBI36
NG_008763.1:g.25291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+288A>G
ENST00000281243.10:c.545+288A>G MANE Select	ENSP00000281243.5:n.545+288A>G
ENST00000281243.9:c.545+288A>G	ENSP00000281243.5:n.545+288A>G
ENST00000428702.6:c.452+288A>G	ENSP00000390944.2:n.452+288A>G
ENST00000501943.6:n.282+288A>G
ENST00000505710.1:c.364-1199A>G
ENST00000507439.5:c.437-1199A>G	ENSP00000423227.1:n.437-1199A>G
ENST00000508623.5:c.437-4708A>G	ENSP00000426377.1:n.437-4708A>G
ENST00000511609.1:n.277+288A>G
ENST00000513615.5:c.437-1199A>G	ENSP00000422759.1:n.437-1199A>G
ENST00000514300.1:c.*368-1199A>G	ENSP00000426039.1:n.*368-1199A>G
NM_000320.2:c.545+288A>G	NP_000311.2:n.545+288A>G
NM_001306140.1:c.452+288A>G	NP_001293069.1:n.452+288A>G
XR_241677.1:n.600-1199A>G
NR_156494.1:n.617-1199A>G
NM_000320.3:c.545+288A>G MANE Select	NP_000311.2:n.545+288A>G
NM_001306140.2:c.452+288A>G	NP_001293069.1:n.452+288A>G
NR_156494.2:n.473-1199A>G