Canonical Allele Identifier: CA2395633601

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913304C= , CM000684.2:g.18913304C=	GRCh38
NC_000022.10:g.18900817C= , CM000684.1:g.18900817C=	GRCh37
NC_000022.9:g.17280817C=	NCBI36
NG_008226.2:g.28250G=
NG_009052.1:g.12082C=
NG_008226.3:g.28250G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1674G= (PRODH) MANE Select	ENSP00000349577.6:p.Leu558=
ENST00000638240.1:c.513+2276C=	ENSP00000492446.1:n.513+2276C=
ENST00000313755.9:n.2439G= (PRODH)
ENST00000334029.6:c.1350G= (PRODH)	ENSP00000334726.2:p.Leu450=
ENST00000357068.10:c.1674G= (PRODH)	ENSP00000349577.6:p.Leu558=
ENST00000420436.5:c.1350G= (PRODH)	ENSP00000410805.1:p.Leu450=
ENST00000429300.5:n.2045G= (PRODH)
ENST00000482858.5:n.4154G= (PRODH)
ENST00000483718.5:c.*1946C= (DGCR6)	ENSP00000467483.1:n.*1946C=
ENST00000491604.5:n.2583G= (PRODH)
ENST00000610940.4:c.1674G= (PRODH)	ENSP00000480347.1:p.Leu558=
NM_001195226.1:c.1350G= (PRODH)	NP_001182155.1:p.Leu450=
NM_016335.4:c.1674G= (PRODH)	NP_057419.4:p.Leu558=
XM_011530278.1:c.1101G= (PRODH)	XP_011528580.1:p.Leu367=
XM_011530279.1:c.894G= (PRODH)	XP_011528581.1:p.Leu298=
XR_937876.1:n.1741G= (PRODH)
NM_005675.5:c.*1615C= (DGCR6)	NP_005666.2:n.*1615C=
NM_001195226.2:c.1350G= (PRODH)	NP_001182155.2:p.Leu450=
NM_016335.5:c.1674G= (PRODH)	NP_057419.5:p.Leu558=
NM_016335.6:c.1674G= (PRODH) MANE Select	NP_057419.5:p.Leu558=