Canonical Allele Identifier: CA410637527

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913190-G-T
• MyVariant Identifiers: chr22:g.18900703G>T (hg19) ; chr22:g.18913190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913190G>T , CM000684.2:g.18913190G>T	GRCh38
NC_000022.10:g.18900703G>T , CM000684.1:g.18900703G>T	GRCh37
NC_000022.9:g.17280703G>T	NCBI36
NG_008226.2:g.28364C>A
NG_009052.1:g.11968G>T
NG_008226.3:g.28364C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1788C>A (PRODH) MANE Select	ENSP00000349577.6:p.Phe596Leu
ENST00000638240.1:c.513+2162G>T	ENSP00000492446.1:n.513+2162G>T
ENST00000313755.9:n.2553C>A (PRODH)
ENST00000334029.6:c.1464C>A (PRODH)	ENSP00000334726.2:p.Phe488Leu
ENST00000357068.10:c.1788C>A (PRODH)	ENSP00000349577.6:p.Phe596Leu
ENST00000420436.5:c.1464C>A (PRODH)	ENSP00000410805.1:p.Phe488Leu
ENST00000429300.5:n.2159C>A (PRODH)
ENST00000482858.5:n.4268C>A (PRODH)
ENST00000483718.5:c.*1832G>T (DGCR6)	ENSP00000467483.1:n.*1832G>T
ENST00000491604.5:n.2697C>A (PRODH)
ENST00000610940.4:c.1788C>A (PRODH)	ENSP00000480347.1:p.Phe596Leu
NM_001195226.1:c.1464C>A (PRODH)	NP_001182155.1:p.Phe488Leu
NM_016335.4:c.1788C>A (PRODH)	NP_057419.4:p.Phe596Leu
XM_011530278.1:c.1215C>A (PRODH)	XP_011528580.1:p.Phe405Leu
XM_011530279.1:c.1008C>A (PRODH)	XP_011528581.1:p.Phe336Leu
XR_937876.1:n.1855C>A (PRODH)
NM_005675.5:c.*1501G>T (DGCR6)	NP_005666.2:n.*1501G>T
NM_001195226.2:c.1464C>A (PRODH)	NP_001182155.2:p.Phe488Leu
NM_016335.5:c.1788C>A (PRODH)	NP_057419.5:p.Phe596Leu
NM_016335.6:c.1788C>A (PRODH) MANE Select	NP_057419.5:p.Phe596Leu