Canonical Allele Identifier: CA2395633549

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1792C= (PRODH) MANE Select ENSP00000349577.6:p.Arg598=
ENST00000638240.1:c.513+2158G= ENSP00000492446.1:n.513+2158G=
ENST00000313755.9:n.2557C= (PRODH)
ENST00000334029.6:c.1468C= (PRODH) ENSP00000334726.2:p.Arg490=
ENST00000357068.10:c.1792C= (PRODH) ENSP00000349577.6:p.Arg598=
ENST00000420436.5:c.1468C= (PRODH) ENSP00000410805.1:p.Arg490=
ENST00000429300.5:n.2163C= (PRODH)
ENST00000482858.5:n.4272C= (PRODH)
ENST00000483718.5:c.*1828G= (DGCR6) ENSP00000467483.1:n.*1828G=
ENST00000491604.5:n.2701C= (PRODH)
ENST00000610940.4:c.1792C= (PRODH) ENSP00000480347.1:p.Arg598=
NM_001195226.1:c.1468C= (PRODH) NP_001182155.1:p.Arg490=
NM_016335.4:c.1792C= (PRODH) NP_057419.4:p.Arg598=
XM_011530278.1:c.1219C= (PRODH) XP_011528580.1:p.Arg407=
XM_011530279.1:c.1012C= (PRODH) XP_011528581.1:p.Arg338=
XR_937876.1:n.1859C= (PRODH)
NM_005675.5:c.*1497G= (DGCR6) NP_005666.2:n.*1497G=
NM_001195226.2:c.1468C= (PRODH) NP_001182155.2:p.Arg490=
NM_016335.5:c.1792C= (PRODH) NP_057419.5:p.Arg598=
NM_016335.6:c.1792C= (PRODH) MANE Select NP_057419.5:p.Arg598=