Canonical Allele Identifier: CA410639029

Gene: PRODH DGCR6

Linked Data

• gnomAD v3: 22-18913488-A-G
• gnomAD v4: 22-18913488-A-G
• MyVariant Identifiers: chr22:g.18901001A>G (hg19) ; chr22:g.18913488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913488A>G , CM000684.2:g.18913488A>G	GRCh38
NC_000022.10:g.18901001A>G , CM000684.1:g.18901001A>G	GRCh37
NC_000022.9:g.17281001A>G	NCBI36
NG_008226.2:g.28066T>C
NG_009052.1:g.12266A>G
NG_008226.3:g.28066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1565T>C (PRODH) MANE Select	ENSP00000349577.6:p.Val522Ala
ENST00000638240.1:c.513+2460A>G	ENSP00000492446.1:n.513+2460A>G
ENST00000313755.9:n.2330T>C (PRODH)
ENST00000334029.6:c.1241T>C (PRODH)	ENSP00000334726.2:p.Val414Ala
ENST00000357068.10:c.1565T>C (PRODH)	ENSP00000349577.6:p.Val522Ala
ENST00000420436.5:c.1241T>C (PRODH)	ENSP00000410805.1:p.Val414Ala
ENST00000429300.5:n.1936T>C (PRODH)
ENST00000482858.5:n.4045T>C (PRODH)
ENST00000483718.5:c.*2130A>G (DGCR6)	ENSP00000467483.1:n.*2130A>G
ENST00000491604.5:n.2474T>C (PRODH)
ENST00000610940.4:c.1565T>C (PRODH)	ENSP00000480347.1:p.Val522Ala
NM_001195226.1:c.1241T>C (PRODH)	NP_001182155.1:p.Val414Ala
NM_016335.4:c.1565T>C (PRODH)	NP_057419.4:p.Val522Ala
XM_011530278.1:c.992T>C (PRODH)	XP_011528580.1:p.Val331Ala
XM_011530279.1:c.785T>C (PRODH)	XP_011528581.1:p.Val262Ala
XR_937876.1:n.1632T>C (PRODH)
NM_005675.5:c.*1799A>G (DGCR6)	NP_005666.2:n.*1799A>G
NM_001195226.2:c.1241T>C (PRODH)	NP_001182155.2:p.Val414Ala
NM_016335.5:c.1565T>C (PRODH)	NP_057419.5:p.Val522Ala
NM_016335.6:c.1565T>C (PRODH) MANE Select	NP_057419.5:p.Val522Ala