Canonical Allele Identifier: CA2395633700

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913515A= , CM000684.2:g.18913515A=	GRCh38
NC_000022.10:g.18901028A= , CM000684.1:g.18901028A=	GRCh37
NC_000022.9:g.17281028A=	NCBI36
NG_008226.2:g.28039T=
NG_009052.1:g.12293A=
NG_008226.3:g.28039T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1538T= (PRODH) MANE Select	ENSP00000349577.6:p.Leu513=
ENST00000638240.1:c.513+2487A=	ENSP00000492446.1:n.513+2487A=
ENST00000313755.9:n.2303T= (PRODH)
ENST00000334029.6:c.1214T= (PRODH)	ENSP00000334726.2:p.Leu405=
ENST00000357068.10:c.1538T= (PRODH)	ENSP00000349577.6:p.Leu513=
ENST00000420436.5:c.1214T= (PRODH)	ENSP00000410805.1:p.Leu405=
ENST00000429300.5:n.1909T= (PRODH)
ENST00000482858.5:n.4018T= (PRODH)
ENST00000483718.5:c.*2157A= (DGCR6)	ENSP00000467483.1:n.*2157A=
ENST00000491604.5:n.2447T= (PRODH)
ENST00000610940.4:c.1538T= (PRODH)	ENSP00000480347.1:p.Leu513=
NM_001195226.1:c.1214T= (PRODH)	NP_001182155.1:p.Leu405=
NM_016335.4:c.1538T= (PRODH)	NP_057419.4:p.Leu513=
XM_011530278.1:c.965T= (PRODH)	XP_011528580.1:p.Leu322=
XM_011530279.1:c.758T= (PRODH)	XP_011528581.1:p.Leu253=
XR_937876.1:n.1605T= (PRODH)
NM_005675.5:c.*1826A= (DGCR6)	NP_005666.2:n.*1826A=
NM_001195226.2:c.1214T= (PRODH)	NP_001182155.2:p.Leu405=
NM_016335.5:c.1538T= (PRODH)	NP_057419.5:p.Leu513=
NM_016335.6:c.1538T= (PRODH) MANE Select	NP_057419.5:p.Leu513=