Canonical Allele Identifier: CA512937819

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913472-C-A
• MyVariant Identifiers: chr22:g.18900985C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913472C>A , CM000684.2:g.18913472C>A	GRCh38
NC_000022.10:g.18900985C>A , CM000684.1:g.18900985C>A	GRCh37
NC_000022.9:g.17280985C>A	NCBI36
NG_008226.2:g.28082G>T
NG_009052.1:g.12250C>A
NG_008226.3:g.28082G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1581G>T (PRODH) MANE Select	ENSP00000349577.6:p.Leu527=
ENST00000638240.1:c.513+2444C>A	ENSP00000492446.1:n.513+2444C>A
ENST00000313755.9:n.2346G>T (PRODH)
ENST00000334029.6:c.1257G>T (PRODH)	ENSP00000334726.2:p.Leu419=
ENST00000357068.10:c.1581G>T (PRODH)	ENSP00000349577.6:p.Leu527=
ENST00000420436.5:c.1257G>T (PRODH)	ENSP00000410805.1:p.Leu419=
ENST00000429300.5:n.1952G>T (PRODH)
ENST00000482858.5:n.4061G>T (PRODH)
ENST00000483718.5:c.*2114C>A (DGCR6)	ENSP00000467483.1:n.*2114C>A
ENST00000491604.5:n.2490G>T (PRODH)
ENST00000610940.4:c.1581G>T (PRODH)	ENSP00000480347.1:p.Leu527=
NM_001195226.1:c.1257G>T (PRODH)	NP_001182155.1:p.Leu419=
NM_016335.4:c.1581G>T (PRODH)	NP_057419.4:p.Leu527=
XM_011530278.1:c.1008G>T (PRODH)	XP_011528580.1:p.Leu336=
XM_011530279.1:c.801G>T (PRODH)	XP_011528581.1:p.Leu267=
XR_937876.1:n.1648G>T (PRODH)
NM_005675.5:c.*1783C>A (DGCR6)	NP_005666.2:n.*1783C>A
NM_001195226.2:c.1257G>T (PRODH)	NP_001182155.2:p.Leu419=
NM_016335.5:c.1581G>T (PRODH)	NP_057419.5:p.Leu527=
NM_016335.6:c.1581G>T (PRODH) MANE Select	NP_057419.5:p.Leu527=