Canonical Allele Identifier: CA2593488512

Gene: QDPR

Linked Data

• dbSNP Id: rs2108987389
• gnomAD v3: 4-17491884-G-A
• gnomAD v4: 4-17491884-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17491884G>A , CM000666.2:g.17491884G>A	GRCh38
NC_000004.11:g.17493507G>A , CM000666.1:g.17493507G>A	GRCh37
NC_000004.10:g.17102605G>A	NCBI36
NG_008763.1:g.25351C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1592+348C>T
ENST00000281243.10:c.545+348C>T MANE Select	ENSP00000281243.5:n.545+348C>T
ENST00000281243.9:c.545+348C>T	ENSP00000281243.5:n.545+348C>T
ENST00000428702.6:c.452+348C>T	ENSP00000390944.2:n.452+348C>T
ENST00000501943.6:n.282+348C>T
ENST00000505710.1:c.364-1139C>T
ENST00000507439.5:c.437-1139C>T	ENSP00000423227.1:n.437-1139C>T
ENST00000508623.5:c.437-4648C>T	ENSP00000426377.1:n.437-4648C>T
ENST00000511609.1:n.277+348C>T
ENST00000513615.5:c.437-1139C>T	ENSP00000422759.1:n.437-1139C>T
ENST00000514300.1:c.*368-1139C>T	ENSP00000426039.1:n.*368-1139C>T
NM_000320.2:c.545+348C>T	NP_000311.2:n.545+348C>T
NM_001306140.1:c.452+348C>T	NP_001293069.1:n.452+348C>T
XR_241677.1:n.600-1139C>T
NR_156494.1:n.617-1139C>T
NM_000320.3:c.545+348C>T MANE Select	NP_000311.2:n.545+348C>T
NM_001306140.2:c.452+348C>T	NP_001293069.1:n.452+348C>T
NR_156494.2:n.473-1139C>T