Canonical Allele Identifier: CA2395633603

Gene: PRODH DGCR6

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913307C= , CM000684.2:g.18913307C=	GRCh38
NC_000022.10:g.18900820C= , CM000684.1:g.18900820C=	GRCh37
NC_000022.9:g.17280820C=	NCBI36
NG_008226.2:g.28247G=
NG_009052.1:g.12085C=
NG_008226.3:g.28247G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1671G= (PRODH) MANE Select	ENSP00000349577.6:p.Val557=
ENST00000638240.1:c.513+2279C=	ENSP00000492446.1:n.513+2279C=
ENST00000313755.9:n.2436G= (PRODH)
ENST00000334029.6:c.1347G= (PRODH)	ENSP00000334726.2:p.Val449=
ENST00000357068.10:c.1671G= (PRODH)	ENSP00000349577.6:p.Val557=
ENST00000420436.5:c.1347G= (PRODH)	ENSP00000410805.1:p.Val449=
ENST00000429300.5:n.2042G= (PRODH)
ENST00000482858.5:n.4151G= (PRODH)
ENST00000483718.5:c.*1949C= (DGCR6)	ENSP00000467483.1:n.*1949C=
ENST00000491604.5:n.2580G= (PRODH)
ENST00000610940.4:c.1671G= (PRODH)	ENSP00000480347.1:p.Val557=
NM_001195226.1:c.1347G= (PRODH)	NP_001182155.1:p.Val449=
NM_016335.4:c.1671G= (PRODH)	NP_057419.4:p.Val557=
XM_011530278.1:c.1098G= (PRODH)	XP_011528580.1:p.Val366=
XM_011530279.1:c.891G= (PRODH)	XP_011528581.1:p.Val297=
XR_937876.1:n.1738G= (PRODH)
NM_005675.5:c.*1618C= (DGCR6)	NP_005666.2:n.*1618C=
NM_001195226.2:c.1347G= (PRODH)	NP_001182155.2:p.Val449=
NM_016335.5:c.1671G= (PRODH)	NP_057419.5:p.Val557=
NM_016335.6:c.1671G= (PRODH) MANE Select	NP_057419.5:p.Val557=