Canonical Allele Identifier: CA2868092
Gene: QDPR HGNC NCBI

Linked Data

ClinVar Variation Id: 899739
ClinVar RCV Id: RCV001144502
dbSNP Id: rs761732291
gnomAD v2: 4-17493914-C-G
gnomAD v4: 4-17492291-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492291C>G , CM000666.2:g.17492291C>G GRCh38
NC_000004.11:g.17493914C>G , CM000666.1:g.17493914C>G GRCh37
NC_000004.10:g.17103012C>G NCBI36
NG_008763.1:g.24944G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1533G>C
ENST00000281243.10:c.486G>C MANE Select ENSP00000281243.5:p.Gln162His
ENST00000281243.9:c.486G>C ENSP00000281243.5:p.Gln162His
ENST00000428702.6:c.393G>C ENSP00000390944.2:p.Gln131His
ENST00000501943.6:n.223G>C
ENST00000505710.1:c.364-1546G>C
ENST00000507439.5:c.437-1546G>C ENSP00000423227.1:n.437-1546G>C
ENST00000508623.5:c.437-5055G>C ENSP00000426377.1:n.437-5055G>C
ENST00000511609.1:n.218G>C
ENST00000513615.5:c.437-1546G>C ENSP00000422759.1:n.437-1546G>C
ENST00000514300.1:c.*368-1546G>C ENSP00000426039.1:n.*368-1546G>C
NM_000320.2:c.486G>C NP_000311.2:p.Gln162His
NM_001306140.1:c.393G>C NP_001293069.1:p.Gln131His
XR_241677.1:n.600-1546G>C
NR_156494.1:n.617-1546G>C
NM_000320.3:c.486G>C MANE Select NP_000311.2:p.Gln162His
NM_001306140.2:c.393G>C NP_001293069.1:p.Gln131His
NR_156494.2:n.473-1546G>C