Canonical Allele Identifier: CA356444815

Gene: QDPR

Linked Data

• dbSNP Id: rs1204386472
• gnomAD v2: 4-17493923-C-A
• MyVariant Identifiers: chr4:g.17493923C>A (hg19) ; chr4:g.17492300C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.17492300C>A , CM000666.2:g.17492300C>A	GRCh38
NC_000004.11:g.17493923C>A , CM000666.1:g.17493923C>A	GRCh37
NC_000004.10:g.17103021C>A	NCBI36
NG_008763.1:g.24935G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706645.1:n.1524G>T
ENST00000281243.10:c.477G>T MANE Select	ENSP00000281243.5:p.Gln159His
ENST00000281243.9:c.477G>T	ENSP00000281243.5:p.Gln159His
ENST00000428702.6:c.384G>T	ENSP00000390944.2:p.Gln128His
ENST00000501943.6:n.214G>T
ENST00000505710.1:c.364-1555G>T
ENST00000507439.5:c.437-1555G>T	ENSP00000423227.1:n.437-1555G>T
ENST00000508623.5:c.437-5064G>T	ENSP00000426377.1:n.437-5064G>T
ENST00000511609.1:n.209G>T
ENST00000513615.5:c.437-1555G>T	ENSP00000422759.1:n.437-1555G>T
ENST00000514300.1:c.*368-1555G>T	ENSP00000426039.1:n.*368-1555G>T
NM_000320.2:c.477G>T	NP_000311.2:p.Gln159His
NM_001306140.1:c.384G>T	NP_001293069.1:p.Gln128His
XR_241677.1:n.600-1555G>T
NR_156494.1:n.617-1555G>T
NM_000320.3:c.477G>T MANE Select	NP_000311.2:p.Gln159His
NM_001306140.2:c.384G>T	NP_001293069.1:p.Gln128His
NR_156494.2:n.473-1555G>T