Canonical Allele Identifier: CA410637532

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913191-A-G
• MyVariant Identifiers: chr22:g.18900704A>G (hg19) ; chr22:g.18913191A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913191A>G , CM000684.2:g.18913191A>G	GRCh38
NC_000022.10:g.18900704A>G , CM000684.1:g.18900704A>G	GRCh37
NC_000022.9:g.17280704A>G	NCBI36
NG_008226.2:g.28363T>C
NG_009052.1:g.11969A>G
NG_008226.3:g.28363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1787T>C (PRODH) MANE Select	ENSP00000349577.6:p.Phe596Ser
ENST00000638240.1:c.513+2163A>G	ENSP00000492446.1:n.513+2163A>G
ENST00000313755.9:n.2552T>C (PRODH)
ENST00000334029.6:c.1463T>C (PRODH)	ENSP00000334726.2:p.Phe488Ser
ENST00000357068.10:c.1787T>C (PRODH)	ENSP00000349577.6:p.Phe596Ser
ENST00000420436.5:c.1463T>C (PRODH)	ENSP00000410805.1:p.Phe488Ser
ENST00000429300.5:n.2158T>C (PRODH)
ENST00000482858.5:n.4267T>C (PRODH)
ENST00000483718.5:c.*1833A>G (DGCR6)	ENSP00000467483.1:n.*1833A>G
ENST00000491604.5:n.2696T>C (PRODH)
ENST00000610940.4:c.1787T>C (PRODH)	ENSP00000480347.1:p.Phe596Ser
NM_001195226.1:c.1463T>C (PRODH)	NP_001182155.1:p.Phe488Ser
NM_016335.4:c.1787T>C (PRODH)	NP_057419.4:p.Phe596Ser
XM_011530278.1:c.1214T>C (PRODH)	XP_011528580.1:p.Phe405Ser
XM_011530279.1:c.1007T>C (PRODH)	XP_011528581.1:p.Phe336Ser
XR_937876.1:n.1854T>C (PRODH)
NM_005675.5:c.*1502A>G (DGCR6)	NP_005666.2:n.*1502A>G
NM_001195226.2:c.1463T>C (PRODH)	NP_001182155.2:p.Phe488Ser
NM_016335.5:c.1787T>C (PRODH)	NP_057419.5:p.Phe596Ser
NM_016335.6:c.1787T>C (PRODH) MANE Select	NP_057419.5:p.Phe596Ser