Canonical Allele Identifier: CA321313758

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs866486878
• gnomAD v2: 22-18900797-G-A
• gnomAD v4: 22-18913284-G-A
• COSMIC: COSM1414838
• MyVariant Identifiers: chr22:g.18900797G>A (hg19) ; chr22:g.18913284G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913284G>A , CM000684.2:g.18913284G>A	GRCh38
NC_000022.10:g.18900797G>A , CM000684.1:g.18900797G>A	GRCh37
NC_000022.9:g.17280797G>A	NCBI36
NG_008226.2:g.28270C>T
NG_009052.1:g.12062G>A
NG_008226.3:g.28270C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1694C>T (PRODH) MANE Select	ENSP00000349577.6:p.Ala565Val
ENST00000638240.1:c.513+2256G>A	ENSP00000492446.1:n.513+2256G>A
ENST00000313755.9:n.2459C>T (PRODH)
ENST00000334029.6:c.1370C>T (PRODH)	ENSP00000334726.2:p.Ala457Val
ENST00000357068.10:c.1694C>T (PRODH)	ENSP00000349577.6:p.Ala565Val
ENST00000420436.5:c.1370C>T (PRODH)	ENSP00000410805.1:p.Ala457Val
ENST00000429300.5:n.2065C>T (PRODH)
ENST00000482858.5:n.4174C>T (PRODH)
ENST00000483718.5:c.*1926G>A (DGCR6)	ENSP00000467483.1:n.*1926G>A
ENST00000491604.5:n.2603C>T (PRODH)
ENST00000610940.4:c.1694C>T (PRODH)	ENSP00000480347.1:p.Ala565Val
NM_001195226.1:c.1370C>T (PRODH)	NP_001182155.1:p.Ala457Val
NM_016335.4:c.1694C>T (PRODH)	NP_057419.4:p.Ala565Val
XM_011530278.1:c.1121C>T (PRODH)	XP_011528580.1:p.Ala374Val
XM_011530279.1:c.914C>T (PRODH)	XP_011528581.1:p.Ala305Val
XR_937876.1:n.1761C>T (PRODH)
NM_005675.5:c.*1595G>A (DGCR6)	NP_005666.2:n.*1595G>A
NM_001195226.2:c.1370C>T (PRODH)	NP_001182155.2:p.Ala457Val
NM_016335.5:c.1694C>T (PRODH)	NP_057419.5:p.Ala565Val
NM_016335.6:c.1694C>T (PRODH) MANE Select	NP_057419.5:p.Ala565Val