Canonical Allele Identifier: CA114325
Gene: QDPR HGNC NCBI

Linked Data

dbSNP Id: rs104893864
MyVariant Identifiers: chr4:g.17503456A>C (hg19) chr4:g.17501833A>C (hg38)
PubMed: PMID:8326489
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.17501833A>C , CM000666.2:g.17501833A>C GRCh38
NC_000004.11:g.17503456A>C , CM000666.1:g.17503456A>C GRCh37
NC_000004.10:g.17112554A>C NCBI36
NG_008763.1:g.15402T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706645.1:n.1369T>G
ENST00000281243.10:c.322T>G MANE Select ENSP00000281243.5:p.Trp108Gly
ENST00000281243.9:c.322T>G ENSP00000281243.5:p.Trp108Gly
ENST00000428702.6:c.229T>G ENSP00000390944.2:p.Trp77Gly
ENST00000505710.1:c.249T>G
ENST00000507439.5:c.322T>G ENSP00000423227.1:p.Trp108Gly
ENST00000508623.5:c.322T>G ENSP00000426377.1:p.Trp108Gly
ENST00000513615.5:c.322T>G ENSP00000422759.1:p.Trp108Gly
ENST00000514300.1:c.*253T>G ENSP00000426039.1:n.*253T>G
NM_000320.2:c.322T>G NP_000311.2:p.Trp108Gly
NM_001306140.1:c.229T>G NP_001293069.1:p.Trp77Gly
XR_241677.1:n.485T>G
NR_156494.1:n.502T>G
NM_000320.3:c.322T>G MANE Select NP_000311.2:p.Trp108Gly
NM_001306140.2:c.229T>G NP_001293069.1:p.Trp77Gly
NR_156494.2:n.358T>G
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