Canonical Allele Identifier: CA410637469

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18900690A>C (hg19) ; chr22:g.18913177A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913177A>C , CM000684.2:g.18913177A>C	GRCh38
NC_000022.10:g.18900690A>C , CM000684.1:g.18900690A>C	GRCh37
NC_000022.9:g.17280690A>C	NCBI36
NG_008226.2:g.28377T>G
NG_009052.1:g.11955A>C
NG_008226.3:g.28377T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1801T>G (PRODH) MANE Select	ENSP00000349577.6:p.Ter601Glu
ENST00000638240.1:c.513+2149A>C	ENSP00000492446.1:n.513+2149A>C
ENST00000313755.9:n.2566T>G (PRODH)
ENST00000334029.6:c.1477T>G (PRODH)	ENSP00000334726.2:p.Ter493Glu
ENST00000357068.10:c.1801T>G (PRODH)	ENSP00000349577.6:p.Ter601Glu
ENST00000420436.5:c.1477T>G (PRODH)	ENSP00000410805.1:p.Ter493Glu
ENST00000429300.5:n.2172T>G (PRODH)
ENST00000482858.5:n.4281T>G (PRODH)
ENST00000483718.5:c.*1819A>C (DGCR6)	ENSP00000467483.1:n.*1819A>C
ENST00000491604.5:n.2710T>G (PRODH)
ENST00000610940.4:c.1801T>G (PRODH)	ENSP00000480347.1:p.Ter601Glu
NM_001195226.1:c.1477T>G (PRODH)	NP_001182155.1:p.Ter493Glu
NM_016335.4:c.1801T>G (PRODH)	NP_057419.4:p.Ter601Glu
XM_011530278.1:c.1228T>G (PRODH)	XP_011528580.1:p.Ter410Glu
XM_011530279.1:c.1021T>G (PRODH)	XP_011528581.1:p.Ter341Glu
XR_937876.1:n.1868T>G (PRODH)
NM_005675.5:c.*1488A>C (DGCR6)	NP_005666.2:n.*1488A>C
NM_001195226.2:c.1477T>G (PRODH)	NP_001182155.2:p.Ter493Glu
NM_016335.5:c.1801T>G (PRODH)	NP_057419.5:p.Ter601Glu
NM_016335.6:c.1801T>G (PRODH) MANE Select	NP_057419.5:p.Ter601Glu