Canonical Allele Identifier: CA410637664

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs2081918431
• gnomAD v3: 22-18913221-A-C
• gnomAD v4: 22-18913221-A-C
• MyVariant Identifiers: chr22:g.18900734A>C (hg19) ; chr22:g.18913221A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913221A>C , CM000684.2:g.18913221A>C	GRCh38
NC_000022.10:g.18900734A>C , CM000684.1:g.18900734A>C	GRCh37
NC_000022.9:g.17280734A>C	NCBI36
NG_008226.2:g.28333T>G
NG_009052.1:g.11999A>C
NG_008226.3:g.28333T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1757T>G (PRODH) MANE Select	ENSP00000349577.6:p.Leu586Arg
ENST00000638240.1:c.513+2193A>C	ENSP00000492446.1:n.513+2193A>C
ENST00000313755.9:n.2522T>G (PRODH)
ENST00000334029.6:c.1433T>G (PRODH)	ENSP00000334726.2:p.Leu478Arg
ENST00000357068.10:c.1757T>G (PRODH)	ENSP00000349577.6:p.Leu586Arg
ENST00000420436.5:c.1433T>G (PRODH)	ENSP00000410805.1:p.Leu478Arg
ENST00000429300.5:n.2128T>G (PRODH)
ENST00000482858.5:n.4237T>G (PRODH)
ENST00000483718.5:c.*1863A>C (DGCR6)	ENSP00000467483.1:n.*1863A>C
ENST00000491604.5:n.2666T>G (PRODH)
ENST00000610940.4:c.1757T>G (PRODH)	ENSP00000480347.1:p.Leu586Arg
NM_001195226.1:c.1433T>G (PRODH)	NP_001182155.1:p.Leu478Arg
NM_016335.4:c.1757T>G (PRODH)	NP_057419.4:p.Leu586Arg
XM_011530278.1:c.1184T>G (PRODH)	XP_011528580.1:p.Leu395Arg
XM_011530279.1:c.977T>G (PRODH)	XP_011528581.1:p.Leu326Arg
XR_937876.1:n.1824T>G (PRODH)
NM_005675.5:c.*1532A>C (DGCR6)	NP_005666.2:n.*1532A>C
NM_001195226.2:c.1433T>G (PRODH)	NP_001182155.2:p.Leu478Arg
NM_016335.5:c.1757T>G (PRODH)	NP_057419.5:p.Leu586Arg
NM_016335.6:c.1757T>G (PRODH) MANE Select	NP_057419.5:p.Leu586Arg