Canonical Allele Identifier: CA10094852

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 1660950
• ClinVar RCV Id: RCV002176340
• dbSNP Id: rs778275329
• ExAC: 22:18900832 G / A
• gnomAD v2: 22-18900832-G-A
• gnomAD v4: 22-18913319-G-A
• MyVariant Identifiers: chr22:g.18900832G>A (hg19) ; chr22:g.18913319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913319G>A , CM000684.2:g.18913319G>A	GRCh38
NC_000022.10:g.18900832G>A , CM000684.1:g.18900832G>A	GRCh37
NC_000022.9:g.17280832G>A	NCBI36
NG_008226.2:g.28235C>T
NG_009052.1:g.12097G>A
NG_008226.3:g.28235C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1659C>T (PRODH) MANE Select	ENSP00000349577.6:p.Pro553=
ENST00000638240.1:c.513+2291G>A	ENSP00000492446.1:n.513+2291G>A
ENST00000313755.9:n.2424C>T (PRODH)
ENST00000334029.6:c.1335C>T (PRODH)	ENSP00000334726.2:p.Pro445=
ENST00000357068.10:c.1659C>T (PRODH)	ENSP00000349577.6:p.Pro553=
ENST00000420436.5:c.1335C>T (PRODH)	ENSP00000410805.1:p.Pro445=
ENST00000429300.5:n.2030C>T (PRODH)
ENST00000482858.5:n.4139C>T (PRODH)
ENST00000483718.5:c.*1961G>A (DGCR6)	ENSP00000467483.1:n.*1961G>A
ENST00000491604.5:n.2568C>T (PRODH)
ENST00000610940.4:c.1659C>T (PRODH)	ENSP00000480347.1:p.Pro553=
NM_001195226.1:c.1335C>T (PRODH)	NP_001182155.1:p.Pro445=
NM_016335.4:c.1659C>T (PRODH)	NP_057419.4:p.Pro553=
XM_011530278.1:c.1086C>T (PRODH)	XP_011528580.1:p.Pro362=
XM_011530279.1:c.879C>T (PRODH)	XP_011528581.1:p.Pro293=
XR_937876.1:n.1726C>T (PRODH)
NM_005675.5:c.*1630G>A (DGCR6)	NP_005666.2:n.*1630G>A
NM_001195226.2:c.1335C>T (PRODH)	NP_001182155.2:p.Pro445=
NM_016335.5:c.1659C>T (PRODH)	NP_057419.5:p.Pro553=
NM_016335.6:c.1659C>T (PRODH) MANE Select	NP_057419.5:p.Pro553=