Canonical Allele Identifier: CA512936243

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1205131784
• gnomAD v2: 22-18900694-A-G
• gnomAD v3: 22-18913181-A-G
• gnomAD v4: 22-18913181-A-G
• MyVariant Identifiers: chr22:g.18900694A>G (hg19) ; chr22:g.18913181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913181A>G , CM000684.2:g.18913181A>G	GRCh38
NC_000022.10:g.18900694A>G , CM000684.1:g.18900694A>G	GRCh37
NC_000022.9:g.17280694A>G	NCBI36
NG_008226.2:g.28373T>C
NG_009052.1:g.11959A>G
NG_008226.3:g.28373T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1797T>C (PRODH) MANE Select	ENSP00000349577.6:p.Pro599=
ENST00000638240.1:c.513+2153A>G	ENSP00000492446.1:n.513+2153A>G
ENST00000313755.9:n.2562T>C (PRODH)
ENST00000334029.6:c.1473T>C (PRODH)	ENSP00000334726.2:p.Pro491=
ENST00000357068.10:c.1797T>C (PRODH)	ENSP00000349577.6:p.Pro599=
ENST00000420436.5:c.1473T>C (PRODH)	ENSP00000410805.1:p.Pro491=
ENST00000429300.5:n.2168T>C (PRODH)
ENST00000482858.5:n.4277T>C (PRODH)
ENST00000483718.5:c.*1823A>G (DGCR6)	ENSP00000467483.1:n.*1823A>G
ENST00000491604.5:n.2706T>C (PRODH)
ENST00000610940.4:c.1797T>C (PRODH)	ENSP00000480347.1:p.Pro599=
NM_001195226.1:c.1473T>C (PRODH)	NP_001182155.1:p.Pro491=
NM_016335.4:c.1797T>C (PRODH)	NP_057419.4:p.Pro599=
XM_011530278.1:c.1224T>C (PRODH)	XP_011528580.1:p.Pro408=
XM_011530279.1:c.1017T>C (PRODH)	XP_011528581.1:p.Pro339=
XR_937876.1:n.1864T>C (PRODH)
NM_005675.5:c.*1492A>G (DGCR6)	NP_005666.2:n.*1492A>G
NM_001195226.2:c.1473T>C (PRODH)	NP_001182155.2:p.Pro491=
NM_016335.5:c.1797T>C (PRODH)	NP_057419.5:p.Pro599=
NM_016335.6:c.1797T>C (PRODH) MANE Select	NP_057419.5:p.Pro599=