Canonical Allele Identifier: CA791239701
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs781735204
gnomAD v3: 4-17511916-G-A
gnomAD v4: 4-17511916-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17511916G>A , CM000666.2:g.17511916G>A GRCh38
NC_000004.11:g.17513539G>A , CM000666.1:g.17513539G>A GRCh37
NC_000004.10:g.17122637G>A NCBI36
NG_008763.1:g.5319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000281243.10:c.105+34C>T MANE Select ENSP00000281243.5:n.105+34C>T
ENST00000281243.9:c.105+34C>T ENSP00000281243.5:n.105+34C>T
ENST00000428702.6:c.105+34C>T ENSP00000390944.2:n.105+34C>T
ENST00000505710.1:c.32+34C>T
ENST00000507439.5:c.105+34C>T ENSP00000423227.1:n.105+34C>T
ENST00000508623.5:c.105+34C>T ENSP00000426377.1:n.105+34C>T
ENST00000513615.5:c.105+34C>T ENSP00000422759.1:n.105+34C>T
ENST00000514300.1:c.105+34C>T ENSP00000426039.1:n.105+34C>T
NM_000320.2:c.105+34C>T NP_000311.2:n.105+34C>T
NM_001306140.1:c.105+34C>T NP_001293069.1:n.105+34C>T
XR_241677.1:n.268+34C>T
NR_156494.1:n.285+34C>T
NM_000320.3:c.105+34C>T MANE Select NP_000311.2:n.105+34C>T
NM_001306140.2:c.105+34C>T NP_001293069.1:n.105+34C>T
NR_156494.2:n.141+34C>T