Canonical Allele Identifier: CA2395633694

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913504G= , CM000684.2:g.18913504G= GRCh38
NC_000022.10:g.18901017G= , CM000684.1:g.18901017G= GRCh37
NC_000022.9:g.17281017G= NCBI36
NG_008226.2:g.28050C=
NG_009052.1:g.12282G=
NG_008226.3:g.28050C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1549C= (PRODH) MANE Select ENSP00000349577.6:p.Pro517=
ENST00000638240.1:c.513+2476G= ENSP00000492446.1:n.513+2476G=
ENST00000313755.9:n.2314C= (PRODH)
ENST00000334029.6:c.1225C= (PRODH) ENSP00000334726.2:p.Pro409=
ENST00000357068.10:c.1549C= (PRODH) ENSP00000349577.6:p.Pro517=
ENST00000420436.5:c.1225C= (PRODH) ENSP00000410805.1:p.Pro409=
ENST00000429300.5:n.1920C= (PRODH)
ENST00000482858.5:n.4029C= (PRODH)
ENST00000483718.5:c.*2146G= (DGCR6) ENSP00000467483.1:n.*2146G=
ENST00000491604.5:n.2458C= (PRODH)
ENST00000610940.4:c.1549C= (PRODH) ENSP00000480347.1:p.Pro517=
NM_001195226.1:c.1225C= (PRODH) NP_001182155.1:p.Pro409=
NM_016335.4:c.1549C= (PRODH) NP_057419.4:p.Pro517=
XM_011530278.1:c.976C= (PRODH) XP_011528580.1:p.Pro326=
XM_011530279.1:c.769C= (PRODH) XP_011528581.1:p.Pro257=
XR_937876.1:n.1616C= (PRODH)
NM_005675.5:c.*1815G= (DGCR6) NP_005666.2:n.*1815G=
NM_001195226.2:c.1225C= (PRODH) NP_001182155.2:p.Pro409=
NM_016335.5:c.1549C= (PRODH) NP_057419.5:p.Pro517=
NM_016335.6:c.1549C= (PRODH) MANE Select NP_057419.5:p.Pro517=