Canonical Allele Identifier: CA10094859

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 459913
• ClinVar RCV Id: RCV000538353 ; RCV002506308
• dbSNP Id: rs16983347
• ExAC: 22:18900868 G / C
• gnomAD v2: 22-18900868-G-C
• gnomAD v3: 22-18913355-G-C
• gnomAD v4: 22-18913355-G-C
• MyVariant Identifiers: chr22:g.18900868G>C (hg19) ; chr22:g.18913355G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913355G>C , CM000684.2:g.18913355G>C	GRCh38
NC_000022.10:g.18900868G>C , CM000684.1:g.18900868G>C	GRCh37
NC_000022.9:g.17280868G>C	NCBI36
NG_008226.2:g.28199C>G
NG_009052.1:g.12133G>C
NG_008226.3:g.28199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1623C>G (PRODH) MANE Select	ENSP00000349577.6:p.Ala541=
ENST00000638240.1:c.513+2327G>C	ENSP00000492446.1:n.513+2327G>C
ENST00000313755.9:n.2388C>G (PRODH)
ENST00000334029.6:c.1299C>G (PRODH)	ENSP00000334726.2:p.Ala433=
ENST00000357068.10:c.1623C>G (PRODH)	ENSP00000349577.6:p.Ala541=
ENST00000420436.5:c.1299C>G (PRODH)	ENSP00000410805.1:p.Ala433=
ENST00000429300.5:n.1994C>G (PRODH)
ENST00000482858.5:n.4103C>G (PRODH)
ENST00000483718.5:c.*1997G>C (DGCR6)	ENSP00000467483.1:n.*1997G>C
ENST00000491604.5:n.2532C>G (PRODH)
ENST00000610940.4:c.1623C>G (PRODH)	ENSP00000480347.1:p.Ala541=
NM_001195226.1:c.1299C>G (PRODH)	NP_001182155.1:p.Ala433=
NM_016335.4:c.1623C>G (PRODH)	NP_057419.4:p.Ala541=
XM_011530278.1:c.1050C>G (PRODH)	XP_011528580.1:p.Ala350=
XM_011530279.1:c.843C>G (PRODH)	XP_011528581.1:p.Ala281=
XR_937876.1:n.1690C>G (PRODH)
NM_005675.5:c.*1666G>C (DGCR6)	NP_005666.2:n.*1666G>C
NM_001195226.2:c.1299C>G (PRODH)	NP_001182155.2:p.Ala433=
NM_016335.5:c.1623C>G (PRODH)	NP_057419.5:p.Ala541=
NM_016335.6:c.1623C>G (PRODH) MANE Select	NP_057419.5:p.Ala541=