Canonical Allele Identifier: CA410637612

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 1016144
• ClinVar RCV Id: RCV001315108 ; RCV002504483
• dbSNP Id: rs779412444
• gnomAD v2: 22-18900719-C-T
• gnomAD v4: 22-18913206-C-T
• MyVariant Identifiers: chr22:g.18900719C>T (hg19) ; chr22:g.18913206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913206C>T , CM000684.2:g.18913206C>T	GRCh38
NC_000022.10:g.18900719C>T , CM000684.1:g.18900719C>T	GRCh37
NC_000022.9:g.17280719C>T	NCBI36
NG_008226.2:g.28348G>A
NG_009052.1:g.11984C>T
NG_008226.3:g.28348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1772G>A (PRODH) MANE Select	ENSP00000349577.6:p.Arg591Gln
ENST00000638240.1:c.513+2178C>T	ENSP00000492446.1:n.513+2178C>T
ENST00000313755.9:n.2537G>A (PRODH)
ENST00000334029.6:c.1448G>A (PRODH)	ENSP00000334726.2:p.Arg483Gln
ENST00000357068.10:c.1772G>A (PRODH)	ENSP00000349577.6:p.Arg591Gln
ENST00000420436.5:c.1448G>A (PRODH)	ENSP00000410805.1:p.Arg483Gln
ENST00000429300.5:n.2143G>A (PRODH)
ENST00000482858.5:n.4252G>A (PRODH)
ENST00000483718.5:c.*1848C>T (DGCR6)	ENSP00000467483.1:n.*1848C>T
ENST00000491604.5:n.2681G>A (PRODH)
ENST00000610940.4:c.1772G>A (PRODH)	ENSP00000480347.1:p.Arg591Gln
NM_001195226.1:c.1448G>A (PRODH)	NP_001182155.1:p.Arg483Gln
NM_016335.4:c.1772G>A (PRODH)	NP_057419.4:p.Arg591Gln
XM_011530278.1:c.1199G>A (PRODH)	XP_011528580.1:p.Arg400Gln
XM_011530279.1:c.992G>A (PRODH)	XP_011528581.1:p.Arg331Gln
XR_937876.1:n.1839G>A (PRODH)
NM_005675.5:c.*1517C>T (DGCR6)	NP_005666.2:n.*1517C>T
NM_001195226.2:c.1448G>A (PRODH)	NP_001182155.2:p.Arg483Gln
NM_016335.5:c.1772G>A (PRODH)	NP_057419.5:p.Arg591Gln
NM_016335.6:c.1772G>A (PRODH) MANE Select	NP_057419.5:p.Arg591Gln