Canonical Allele Identifier: CA512936649

Gene: PRODH DGCR6

Linked Data

• gnomAD v3: 22-18913249-G-T
• gnomAD v4: 22-18913249-G-T
• MyVariant Identifiers: chr22:g.18900762G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913249G>T , CM000684.2:g.18913249G>T	GRCh38
NC_000022.10:g.18900762G>T , CM000684.1:g.18900762G>T	GRCh37
NC_000022.9:g.17280762G>T	NCBI36
NG_008226.2:g.28305C>A
NG_009052.1:g.12027G>T
NG_008226.3:g.28305C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357068.11:c.1729C>A (PRODH) MANE Select	ENSP00000349577.6:p.Arg577=
ENST00000638240.1:c.513+2221G>T	ENSP00000492446.1:n.513+2221G>T
ENST00000313755.9:n.2494C>A (PRODH)
ENST00000334029.6:c.1405C>A (PRODH)	ENSP00000334726.2:p.Arg469=
ENST00000357068.10:c.1729C>A (PRODH)	ENSP00000349577.6:p.Arg577=
ENST00000420436.5:c.1405C>A (PRODH)	ENSP00000410805.1:p.Arg469=
ENST00000429300.5:n.2100C>A (PRODH)
ENST00000482858.5:n.4209C>A (PRODH)
ENST00000483718.5:c.*1891G>T (DGCR6)	ENSP00000467483.1:n.*1891G>T
ENST00000491604.5:n.2638C>A (PRODH)
ENST00000610940.4:c.1729C>A (PRODH)	ENSP00000480347.1:p.Arg577=
NM_001195226.1:c.1405C>A (PRODH)	NP_001182155.1:p.Arg469=
NM_016335.4:c.1729C>A (PRODH)	NP_057419.4:p.Arg577=
XM_011530278.1:c.1156C>A (PRODH)	XP_011528580.1:p.Arg386=
XM_011530279.1:c.949C>A (PRODH)	XP_011528581.1:p.Arg317=
XR_937876.1:n.1796C>A (PRODH)
NM_005675.5:c.*1560G>T (DGCR6)	NP_005666.2:n.*1560G>T
NM_001195226.2:c.1405C>A (PRODH)	NP_001182155.2:p.Arg469=
NM_016335.5:c.1729C>A (PRODH)	NP_057419.5:p.Arg577=
NM_016335.6:c.1729C>A (PRODH) MANE Select	NP_057419.5:p.Arg577=