Canonical Allele Identifier: CA2705192160
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs2108987914

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17492614C>G , CM000666.2:g.17492614C>G GRCh38
NC_000004.11:g.17494237C>G , CM000666.1:g.17494237C>G GRCh37
NC_000004.10:g.17103335C>G NCBI36
NG_008763.1:g.24621G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706645.1:n.1484-274G>C
ENST00000281243.10:c.437-274G>C MANE Select ENSP00000281243.5:n.437-274G>C
ENST00000281243.9:c.437-274G>C ENSP00000281243.5:n.437-274G>C
ENST00000428702.6:c.344-274G>C ENSP00000390944.2:n.344-274G>C
ENST00000505710.1:c.364-1869G>C
ENST00000507439.5:c.437-1869G>C ENSP00000423227.1:n.437-1869G>C
ENST00000508623.5:c.437-5378G>C ENSP00000426377.1:n.437-5378G>C
ENST00000513615.5:c.437-1869G>C ENSP00000422759.1:n.437-1869G>C
ENST00000514300.1:c.*368-1869G>C ENSP00000426039.1:n.*368-1869G>C
NM_000320.2:c.437-274G>C NP_000311.2:n.437-274G>C
NM_001306140.1:c.344-274G>C NP_001293069.1:n.344-274G>C
XR_241677.1:n.600-1869G>C
NR_156494.1:n.617-1869G>C
NM_000320.3:c.437-274G>C MANE Select NP_000311.2:n.437-274G>C
NM_001306140.2:c.344-274G>C NP_001293069.1:n.344-274G>C
NR_156494.2:n.473-1869G>C