Canonical Allele Identifier: CA10094831

Linked Data

ClinVar Variation Id: 2172236
ClinVar RCV Id: RCV003087325
dbSNP Id: rs755449569

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913186G>A , CM000684.2:g.18913186G>A GRCh38
NC_000022.10:g.18900699G>A , CM000684.1:g.18900699G>A GRCh37
NC_000022.9:g.17280699G>A NCBI36
NG_008226.2:g.28368C>T
NG_009052.1:g.11964G>A
NG_008226.3:g.28368C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1792C>T (PRODH) MANE Select ENSP00000349577.6:p.Arg598Cys
ENST00000638240.1:c.513+2158G>A ENSP00000492446.1:n.513+2158G>A
ENST00000313755.9:n.2557C>T (PRODH)
ENST00000334029.6:c.1468C>T (PRODH) ENSP00000334726.2:p.Arg490Cys
ENST00000357068.10:c.1792C>T (PRODH) ENSP00000349577.6:p.Arg598Cys
ENST00000420436.5:c.1468C>T (PRODH) ENSP00000410805.1:p.Arg490Cys
ENST00000429300.5:n.2163C>T (PRODH)
ENST00000482858.5:n.4272C>T (PRODH)
ENST00000483718.5:c.*1828G>A (DGCR6) ENSP00000467483.1:n.*1828G>A
ENST00000491604.5:n.2701C>T (PRODH)
ENST00000610940.4:c.1792C>T (PRODH) ENSP00000480347.1:p.Arg598Cys
NM_001195226.1:c.1468C>T (PRODH) NP_001182155.1:p.Arg490Cys
NM_016335.4:c.1792C>T (PRODH) NP_057419.4:p.Arg598Cys
XM_011530278.1:c.1219C>T (PRODH) XP_011528580.1:p.Arg407Cys
XM_011530279.1:c.1012C>T (PRODH) XP_011528581.1:p.Arg338Cys
XR_937876.1:n.1859C>T (PRODH)
NM_005675.5:c.*1497G>A (DGCR6) NP_005666.2:n.*1497G>A
NM_001195226.2:c.1468C>T (PRODH) NP_001182155.2:p.Arg490Cys
NM_016335.5:c.1792C>T (PRODH) NP_057419.5:p.Arg598Cys
NM_016335.6:c.1792C>T (PRODH) MANE Select NP_057419.5:p.Arg598Cys