Canonical Allele Identifier: CA2395633512

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913135G= , CM000684.2:g.18913135G= GRCh38
NC_000022.10:g.18900648G= , CM000684.1:g.18900648G= GRCh37
NC_000022.9:g.17280648G= NCBI36
NG_008226.2:g.28419C=
NG_009052.1:g.11913G=
NG_008226.3:g.28419C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.*40C= (PRODH) MANE Select ENSP00000349577.6:n.*40C=
ENST00000638240.1:c.513+2107G= ENSP00000492446.1:n.513+2107G=
ENST00000313755.9:n.2608C= (PRODH)
ENST00000334029.6:c.*40C= (PRODH) ENSP00000334726.2:n.*40C=
ENST00000357068.10:c.*40C= (PRODH) ENSP00000349577.6:n.*40C=
ENST00000420436.5:c.*40C= (PRODH) ENSP00000410805.1:n.*40C=
ENST00000429300.5:n.2214C= (PRODH)
ENST00000482858.5:n.4323C= (PRODH)
ENST00000483718.5:c.*1777G= (DGCR6) ENSP00000467483.1:n.*1777G=
ENST00000491604.5:n.2752C= (PRODH)
ENST00000610940.4:c.*40C= (PRODH) ENSP00000480347.1:n.*40C=
NM_001195226.1:c.*40C= (PRODH) NP_001182155.1:n.*40C=
NM_016335.4:c.*40C= (PRODH) NP_057419.4:n.*40C=
XM_011530278.1:c.*40C= (PRODH) XP_011528580.1:n.*40C=
XM_011530279.1:c.*40C= (PRODH) XP_011528581.1:n.*40C=
XR_937876.1:n.1910C= (PRODH)
NM_005675.5:c.*1446G= (DGCR6) NP_005666.2:n.*1446G=
NM_001195226.2:c.*40C= (PRODH) NP_001182155.2:n.*40C=
NM_016335.5:c.*40C= (PRODH) NP_057419.5:n.*40C=
NM_016335.6:c.*40C= (PRODH) MANE Select NP_057419.5:n.*40C=