Canonical Allele Identifier: CA512936419

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18900721G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913208G>C , CM000684.2:g.18913208G>C	GRCh38
NC_000022.10:g.18900721G>C , CM000684.1:g.18900721G>C	GRCh37
NC_000022.9:g.17280721G>C	NCBI36
NG_008226.2:g.28346C>G
NG_009052.1:g.11986G>C
NG_008226.3:g.28346C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1770C>G (PRODH) MANE Select	ENSP00000349577.6:p.Leu590=
ENST00000638240.1:c.513+2180G>C	ENSP00000492446.1:n.513+2180G>C
ENST00000313755.9:n.2535C>G (PRODH)
ENST00000334029.6:c.1446C>G (PRODH)	ENSP00000334726.2:p.Leu482=
ENST00000357068.10:c.1770C>G (PRODH)	ENSP00000349577.6:p.Leu590=
ENST00000420436.5:c.1446C>G (PRODH)	ENSP00000410805.1:p.Leu482=
ENST00000429300.5:n.2141C>G (PRODH)
ENST00000482858.5:n.4250C>G (PRODH)
ENST00000483718.5:c.*1850G>C (DGCR6)	ENSP00000467483.1:n.*1850G>C
ENST00000491604.5:n.2679C>G (PRODH)
ENST00000610940.4:c.1770C>G (PRODH)	ENSP00000480347.1:p.Leu590=
NM_001195226.1:c.1446C>G (PRODH)	NP_001182155.1:p.Leu482=
NM_016335.4:c.1770C>G (PRODH)	NP_057419.4:p.Leu590=
XM_011530278.1:c.1197C>G (PRODH)	XP_011528580.1:p.Leu399=
XM_011530279.1:c.990C>G (PRODH)	XP_011528581.1:p.Leu330=
XR_937876.1:n.1837C>G (PRODH)
NM_005675.5:c.*1519G>C (DGCR6)	NP_005666.2:n.*1519G>C
NM_001195226.2:c.1446C>G (PRODH)	NP_001182155.2:p.Leu482=
NM_016335.5:c.1770C>G (PRODH)	NP_057419.5:p.Leu590=
NM_016335.6:c.1770C>G (PRODH) MANE Select	NP_057419.5:p.Leu590=