Canonical Allele Identifier: CA512936494

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 2889435
• ClinVar RCV Id: RCV003610804
• dbSNP Id: rs1208461570
• gnomAD v2: 22-18900733-G-A
• MyVariant Identifiers: chr22:g.18900733G>A (hg19) ; chr22:g.18913220G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913220G>A , CM000684.2:g.18913220G>A	GRCh38
NC_000022.10:g.18900733G>A , CM000684.1:g.18900733G>A	GRCh37
NC_000022.9:g.17280733G>A	NCBI36
NG_008226.2:g.28334C>T
NG_009052.1:g.11998G>A
NG_008226.3:g.28334C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1758C>T (PRODH) MANE Select	ENSP00000349577.6:p.Leu586=
ENST00000638240.1:c.513+2192G>A	ENSP00000492446.1:n.513+2192G>A
ENST00000313755.9:n.2523C>T (PRODH)
ENST00000334029.6:c.1434C>T (PRODH)	ENSP00000334726.2:p.Leu478=
ENST00000357068.10:c.1758C>T (PRODH)	ENSP00000349577.6:p.Leu586=
ENST00000420436.5:c.1434C>T (PRODH)	ENSP00000410805.1:p.Leu478=
ENST00000429300.5:n.2129C>T (PRODH)
ENST00000482858.5:n.4238C>T (PRODH)
ENST00000483718.5:c.*1862G>A (DGCR6)	ENSP00000467483.1:n.*1862G>A
ENST00000491604.5:n.2667C>T (PRODH)
ENST00000610940.4:c.1758C>T (PRODH)	ENSP00000480347.1:p.Leu586=
NM_001195226.1:c.1434C>T (PRODH)	NP_001182155.1:p.Leu478=
NM_016335.4:c.1758C>T (PRODH)	NP_057419.4:p.Leu586=
XM_011530278.1:c.1185C>T (PRODH)	XP_011528580.1:p.Leu395=
XM_011530279.1:c.978C>T (PRODH)	XP_011528581.1:p.Leu326=
XR_937876.1:n.1825C>T (PRODH)
NM_005675.5:c.*1531G>A (DGCR6)	NP_005666.2:n.*1531G>A
NM_001195226.2:c.1434C>T (PRODH)	NP_001182155.2:p.Leu478=
NM_016335.5:c.1758C>T (PRODH)	NP_057419.5:p.Leu586=
NM_016335.6:c.1758C>T (PRODH) MANE Select	NP_057419.5:p.Leu586=