Canonical Allele Identifier: CA410638571

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18900951C>A (hg19) ; chr22:g.18913438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913438C>A , CM000684.2:g.18913438C>A	GRCh38
NC_000022.10:g.18900951C>A , CM000684.1:g.18900951C>A	GRCh37
NC_000022.9:g.17280951C>A	NCBI36
NG_008226.2:g.28116G>T
NG_009052.1:g.12216C>A
NG_008226.3:g.28116G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615G>T (PRODH) MANE Select	ENSP00000349577.6:p.Gly539Cys
ENST00000638240.1:c.513+2410C>A	ENSP00000492446.1:n.513+2410C>A
ENST00000313755.9:n.2380G>T (PRODH)
ENST00000334029.6:c.1291G>T (PRODH)	ENSP00000334726.2:p.Gly431Cys
ENST00000357068.10:c.1615G>T (PRODH)	ENSP00000349577.6:p.Gly539Cys
ENST00000420436.5:c.1291G>T (PRODH)	ENSP00000410805.1:p.Gly431Cys
ENST00000429300.5:n.1986G>T (PRODH)
ENST00000482858.5:n.4095G>T (PRODH)
ENST00000483718.5:c.*2080C>A (DGCR6)	ENSP00000467483.1:n.*2080C>A
ENST00000491604.5:n.2524G>T (PRODH)
ENST00000610940.4:c.1615G>T (PRODH)	ENSP00000480347.1:p.Gly539Cys
NM_001195226.1:c.1291G>T (PRODH)	NP_001182155.1:p.Gly431Cys
NM_016335.4:c.1615G>T (PRODH)	NP_057419.4:p.Gly539Cys
XM_011530278.1:c.1042G>T (PRODH)	XP_011528580.1:p.Gly348Cys
XM_011530279.1:c.835G>T (PRODH)	XP_011528581.1:p.Gly279Cys
XR_937876.1:n.1682G>T (PRODH)
NM_005675.5:c.*1749C>A (DGCR6)	NP_005666.2:n.*1749C>A
NM_001195226.2:c.1291G>T (PRODH)	NP_001182155.2:p.Gly431Cys
NM_016335.5:c.1615G>T (PRODH)	NP_057419.5:p.Gly539Cys
NM_016335.6:c.1615G>T (PRODH) MANE Select	NP_057419.5:p.Gly539Cys