Canonical Allele Identifier: CA410637943

Gene: PRODH DGCR6

Linked Data

• gnomAD v3: 22-18913272-C-A
• gnomAD v4: 22-18913272-C-A
• MyVariant Identifiers: chr22:g.18900785C>A (hg19) ; chr22:g.18913272C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913272C>A , CM000684.2:g.18913272C>A	GRCh38
NC_000022.10:g.18900785C>A , CM000684.1:g.18900785C>A	GRCh37
NC_000022.9:g.17280785C>A	NCBI36
NG_008226.2:g.28282G>T
NG_009052.1:g.12050C>A
NG_008226.3:g.28282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1706G>T (PRODH) MANE Select	ENSP00000349577.6:p.Ser569Ile
ENST00000638240.1:c.513+2244C>A	ENSP00000492446.1:n.513+2244C>A
ENST00000313755.9:n.2471G>T (PRODH)
ENST00000334029.6:c.1382G>T (PRODH)	ENSP00000334726.2:p.Ser461Ile
ENST00000357068.10:c.1706G>T (PRODH)	ENSP00000349577.6:p.Ser569Ile
ENST00000420436.5:c.1382G>T (PRODH)	ENSP00000410805.1:p.Ser461Ile
ENST00000429300.5:n.2077G>T (PRODH)
ENST00000482858.5:n.4186G>T (PRODH)
ENST00000483718.5:c.*1914C>A (DGCR6)	ENSP00000467483.1:n.*1914C>A
ENST00000491604.5:n.2615G>T (PRODH)
ENST00000610940.4:c.1706G>T (PRODH)	ENSP00000480347.1:p.Ser569Ile
NM_001195226.1:c.1382G>T (PRODH)	NP_001182155.1:p.Ser461Ile
NM_016335.4:c.1706G>T (PRODH)	NP_057419.4:p.Ser569Ile
XM_011530278.1:c.1133G>T (PRODH)	XP_011528580.1:p.Ser378Ile
XM_011530279.1:c.926G>T (PRODH)	XP_011528581.1:p.Ser309Ile
XR_937876.1:n.1773G>T (PRODH)
NM_005675.5:c.*1583C>A (DGCR6)	NP_005666.2:n.*1583C>A
NM_001195226.2:c.1382G>T (PRODH)	NP_001182155.2:p.Ser461Ile
NM_016335.5:c.1706G>T (PRODH)	NP_057419.5:p.Ser569Ile
NM_016335.6:c.1706G>T (PRODH) MANE Select	NP_057419.5:p.Ser569Ile