Canonical Allele Identifier: CA321313818

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs867893870
• gnomAD v4: 22-18913475-C-A
• MyVariant Identifiers: chr22:g.18900988C>A (hg19) ; chr22:g.18913475C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913475C>A , CM000684.2:g.18913475C>A	GRCh38
NC_000022.10:g.18900988C>A , CM000684.1:g.18900988C>A	GRCh37
NC_000022.9:g.17280988C>A	NCBI36
NG_008226.2:g.28079G>T
NG_009052.1:g.12253C>A
NG_008226.3:g.28079G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1578G>T (PRODH) MANE Select	ENSP00000349577.6:p.Gln526His
ENST00000638240.1:c.513+2447C>A	ENSP00000492446.1:n.513+2447C>A
ENST00000313755.9:n.2343G>T (PRODH)
ENST00000334029.6:c.1254G>T (PRODH)	ENSP00000334726.2:p.Gln418His
ENST00000357068.10:c.1578G>T (PRODH)	ENSP00000349577.6:p.Gln526His
ENST00000420436.5:c.1254G>T (PRODH)	ENSP00000410805.1:p.Gln418His
ENST00000429300.5:n.1949G>T (PRODH)
ENST00000482858.5:n.4058G>T (PRODH)
ENST00000483718.5:c.*2117C>A (DGCR6)	ENSP00000467483.1:n.*2117C>A
ENST00000491604.5:n.2487G>T (PRODH)
ENST00000610940.4:c.1578G>T (PRODH)	ENSP00000480347.1:p.Gln526His
NM_001195226.1:c.1254G>T (PRODH)	NP_001182155.1:p.Gln418His
NM_016335.4:c.1578G>T (PRODH)	NP_057419.4:p.Gln526His
XM_011530278.1:c.1005G>T (PRODH)	XP_011528580.1:p.Gln335His
XM_011530279.1:c.798G>T (PRODH)	XP_011528581.1:p.Gln266His
XR_937876.1:n.1645G>T (PRODH)
NM_005675.5:c.*1786C>A (DGCR6)	NP_005666.2:n.*1786C>A
NM_001195226.2:c.1254G>T (PRODH)	NP_001182155.2:p.Gln418His
NM_016335.5:c.1578G>T (PRODH)	NP_057419.5:p.Gln526His
NM_016335.6:c.1578G>T (PRODH) MANE Select	NP_057419.5:p.Gln526His