Canonical Allele Identifier: CA410638921

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18900987G>T (hg19) ; chr22:g.18913474G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913474G>T , CM000684.2:g.18913474G>T	GRCh38
NC_000022.10:g.18900987G>T , CM000684.1:g.18900987G>T	GRCh37
NC_000022.9:g.17280987G>T	NCBI36
NG_008226.2:g.28080C>A
NG_009052.1:g.12252G>T
NG_008226.3:g.28080C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1579C>A (PRODH) MANE Select	ENSP00000349577.6:p.Leu527Met
ENST00000638240.1:c.513+2446G>T	ENSP00000492446.1:n.513+2446G>T
ENST00000313755.9:n.2344C>A (PRODH)
ENST00000334029.6:c.1255C>A (PRODH)	ENSP00000334726.2:p.Leu419Met
ENST00000357068.10:c.1579C>A (PRODH)	ENSP00000349577.6:p.Leu527Met
ENST00000420436.5:c.1255C>A (PRODH)	ENSP00000410805.1:p.Leu419Met
ENST00000429300.5:n.1950C>A (PRODH)
ENST00000482858.5:n.4059C>A (PRODH)
ENST00000483718.5:c.*2116G>T (DGCR6)	ENSP00000467483.1:n.*2116G>T
ENST00000491604.5:n.2488C>A (PRODH)
ENST00000610940.4:c.1579C>A (PRODH)	ENSP00000480347.1:p.Leu527Met
NM_001195226.1:c.1255C>A (PRODH)	NP_001182155.1:p.Leu419Met
NM_016335.4:c.1579C>A (PRODH)	NP_057419.4:p.Leu527Met
XM_011530278.1:c.1006C>A (PRODH)	XP_011528580.1:p.Leu336Met
XM_011530279.1:c.799C>A (PRODH)	XP_011528581.1:p.Leu267Met
XR_937876.1:n.1646C>A (PRODH)
NM_005675.5:c.*1785G>T (DGCR6)	NP_005666.2:n.*1785G>T
NM_001195226.2:c.1255C>A (PRODH)	NP_001182155.2:p.Leu419Met
NM_016335.5:c.1579C>A (PRODH)	NP_057419.5:p.Leu527Met
NM_016335.6:c.1579C>A (PRODH) MANE Select	NP_057419.5:p.Leu527Met