Canonical Allele Identifier: CA2395633698

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913511G= , CM000684.2:g.18913511G= GRCh38
NC_000022.10:g.18901024G= , CM000684.1:g.18901024G= GRCh37
NC_000022.9:g.17281024G= NCBI36
NG_008226.2:g.28043C=
NG_009052.1:g.12289G=
NG_008226.3:g.28043C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1542C= (PRODH) MANE Select ENSP00000349577.6:p.Gly514=
ENST00000638240.1:c.513+2483G= ENSP00000492446.1:n.513+2483G=
ENST00000313755.9:n.2307C= (PRODH)
ENST00000334029.6:c.1218C= (PRODH) ENSP00000334726.2:p.Gly406=
ENST00000357068.10:c.1542C= (PRODH) ENSP00000349577.6:p.Gly514=
ENST00000420436.5:c.1218C= (PRODH) ENSP00000410805.1:p.Gly406=
ENST00000429300.5:n.1913C= (PRODH)
ENST00000482858.5:n.4022C= (PRODH)
ENST00000483718.5:c.*2153G= (DGCR6) ENSP00000467483.1:n.*2153G=
ENST00000491604.5:n.2451C= (PRODH)
ENST00000610940.4:c.1542C= (PRODH) ENSP00000480347.1:p.Gly514=
NM_001195226.1:c.1218C= (PRODH) NP_001182155.1:p.Gly406=
NM_016335.4:c.1542C= (PRODH) NP_057419.4:p.Gly514=
XM_011530278.1:c.969C= (PRODH) XP_011528580.1:p.Gly323=
XM_011530279.1:c.762C= (PRODH) XP_011528581.1:p.Gly254=
XR_937876.1:n.1609C= (PRODH)
NM_005675.5:c.*1822G= (DGCR6) NP_005666.2:n.*1822G=
NM_001195226.2:c.1218C= (PRODH) NP_001182155.2:p.Gly406=
NM_016335.5:c.1542C= (PRODH) NP_057419.5:p.Gly514=
NM_016335.6:c.1542C= (PRODH) MANE Select NP_057419.5:p.Gly514=