Canonical Allele Identifier: CA2739267784

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 2854811
• ClinVar RCV Id: RCV003608981

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913418C>A , CM000684.2:g.18913418C>A	GRCh38
NC_000022.10:g.18900931C>A , CM000684.1:g.18900931C>A	GRCh37
NC_000022.9:g.17280931C>A	NCBI36
NG_008226.2:g.28136G>T
NG_009052.1:g.12196C>A
NG_008226.3:g.28136G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+20G>T (PRODH) MANE Select	ENSP00000349577.6:n.1615+20G>T
ENST00000638240.1:c.513+2390C>A	ENSP00000492446.1:n.513+2390C>A
ENST00000313755.9:n.2380+20G>T (PRODH)
ENST00000334029.6:c.1291+20G>T (PRODH)	ENSP00000334726.2:n.1291+20G>T
ENST00000357068.10:c.1615+20G>T (PRODH)	ENSP00000349577.6:n.1615+20G>T
ENST00000420436.5:c.1291+20G>T (PRODH)	ENSP00000410805.1:n.1291+20G>T
ENST00000429300.5:n.1986+20G>T (PRODH)
ENST00000482858.5:n.4095+20G>T (PRODH)
ENST00000483718.5:c.*2060C>A (DGCR6)	ENSP00000467483.1:n.*2060C>A
ENST00000491604.5:n.2524+20G>T (PRODH)
ENST00000610940.4:c.1615+20G>T (PRODH)	ENSP00000480347.1:n.1615+20G>T
NM_001195226.1:c.1291+20G>T (PRODH)	NP_001182155.1:n.1291+20G>T
NM_016335.4:c.1615+20G>T (PRODH)	NP_057419.4:n.1615+20G>T
XM_011530278.1:c.1042+20G>T (PRODH)	XP_011528580.1:n.1042+20G>T
XM_011530279.1:c.835+20G>T (PRODH)	XP_011528581.1:n.835+20G>T
XR_937876.1:n.1682+20G>T (PRODH)
NM_005675.5:c.*1729C>A (DGCR6)	NP_005666.2:n.*1729C>A
NM_001195226.2:c.1291+20G>T (PRODH)	NP_001182155.2:n.1291+20G>T
NM_016335.5:c.1615+20G>T (PRODH)	NP_057419.5:n.1615+20G>T
NM_016335.6:c.1615+20G>T (PRODH) MANE Select	NP_057419.5:n.1615+20G>T