Canonical Allele Identifier: CA2868074
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs751460559
gnomAD v2: 4-17493864-G-C
gnomAD v4: 4-17492241-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492241G>C , CM000666.2:g.17492241G>C GRCh38
NC_000004.11:g.17493864G>C , CM000666.1:g.17493864G>C GRCh37
NC_000004.10:g.17102962G>C NCBI36
NG_008763.1:g.24994C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1583C>G
ENST00000281243.10:c.536C>G MANE Select ENSP00000281243.5:p.Ala179Gly
ENST00000281243.9:c.536C>G ENSP00000281243.5:p.Ala179Gly
ENST00000428702.6:c.443C>G ENSP00000390944.2:p.Ala148Gly
ENST00000501943.6:n.273C>G
ENST00000505710.1:c.364-1496C>G
ENST00000507439.5:c.437-1496C>G ENSP00000423227.1:n.437-1496C>G
ENST00000508623.5:c.437-5005C>G ENSP00000426377.1:n.437-5005C>G
ENST00000511609.1:n.268C>G
ENST00000513615.5:c.437-1496C>G ENSP00000422759.1:n.437-1496C>G
ENST00000514300.1:c.*368-1496C>G ENSP00000426039.1:n.*368-1496C>G
NM_000320.2:c.536C>G NP_000311.2:p.Ala179Gly
NM_001306140.1:c.443C>G NP_001293069.1:p.Ala148Gly
XR_241677.1:n.600-1496C>G
NR_156494.1:n.617-1496C>G
NM_000320.3:c.536C>G MANE Select NP_000311.2:p.Ala179Gly
NM_001306140.2:c.443C>G NP_001293069.1:p.Ala148Gly
NR_156494.2:n.473-1496C>G