Canonical Allele Identifier: CA2395633723

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913569C= , CM000684.2:g.18913569C= GRCh38
NC_000022.10:g.18901082C= , CM000684.1:g.18901082C= GRCh37
NC_000022.9:g.17281082C= NCBI36
NG_008226.2:g.27985G=
NG_009052.1:g.12347C=
NG_008226.3:g.27985G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1527-43G= (PRODH) MANE Select ENSP00000349577.6:n.1527-43G=
ENST00000638240.1:c.513+2541C= ENSP00000492446.1:n.513+2541C=
ENST00000313755.9:n.2292-43G= (PRODH)
ENST00000334029.6:c.1203-43G= (PRODH) ENSP00000334726.2:n.1203-43G=
ENST00000357068.10:c.1527-43G= (PRODH) ENSP00000349577.6:n.1527-43G=
ENST00000420436.5:c.1203-43G= (PRODH) ENSP00000410805.1:n.1203-43G=
ENST00000429300.5:n.1898-43G= (PRODH)
ENST00000482858.5:n.4007-43G= (PRODH)
ENST00000483718.5:c.*2211C= (DGCR6) ENSP00000467483.1:n.*2211C=
ENST00000491604.5:n.2436-43G= (PRODH)
ENST00000610940.4:c.1527-43G= (PRODH) ENSP00000480347.1:n.1527-43G=
NM_001195226.1:c.1203-43G= (PRODH) NP_001182155.1:n.1203-43G=
NM_016335.4:c.1527-43G= (PRODH) NP_057419.4:n.1527-43G=
XM_011530278.1:c.954-43G= (PRODH) XP_011528580.1:n.954-43G=
XM_011530279.1:c.747-43G= (PRODH) XP_011528581.1:n.747-43G=
XR_937876.1:n.1594-43G= (PRODH)
NM_005675.5:c.*1880C= (DGCR6) NP_005666.2:n.*1880C=
NM_001195226.2:c.1203-43G= (PRODH) NP_001182155.2:n.1203-43G=
NM_016335.5:c.1527-43G= (PRODH) NP_057419.5:n.1527-43G=
NM_016335.6:c.1527-43G= (PRODH) MANE Select NP_057419.5:n.1527-43G=