Canonical Allele Identifier: CA410639186

Gene: PRODH DGCR6

Linked Data

• gnomAD v4: 22-18913513-C-A
• MyVariant Identifiers: chr22:g.18901026C>A (hg19) ; chr22:g.18913513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913513C>A , CM000684.2:g.18913513C>A	GRCh38
NC_000022.10:g.18901026C>A , CM000684.1:g.18901026C>A	GRCh37
NC_000022.9:g.17281026C>A	NCBI36
NG_008226.2:g.28041G>T
NG_009052.1:g.12291C>A
NG_008226.3:g.28041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1540G>T (PRODH) MANE Select	ENSP00000349577.6:p.Gly514Cys
ENST00000638240.1:c.513+2485C>A	ENSP00000492446.1:n.513+2485C>A
ENST00000313755.9:n.2305G>T (PRODH)
ENST00000334029.6:c.1216G>T (PRODH)	ENSP00000334726.2:p.Gly406Cys
ENST00000357068.10:c.1540G>T (PRODH)	ENSP00000349577.6:p.Gly514Cys
ENST00000420436.5:c.1216G>T (PRODH)	ENSP00000410805.1:p.Gly406Cys
ENST00000429300.5:n.1911G>T (PRODH)
ENST00000482858.5:n.4020G>T (PRODH)
ENST00000483718.5:c.*2155C>A (DGCR6)	ENSP00000467483.1:n.*2155C>A
ENST00000491604.5:n.2449G>T (PRODH)
ENST00000610940.4:c.1540G>T (PRODH)	ENSP00000480347.1:p.Gly514Cys
NM_001195226.1:c.1216G>T (PRODH)	NP_001182155.1:p.Gly406Cys
NM_016335.4:c.1540G>T (PRODH)	NP_057419.4:p.Gly514Cys
XM_011530278.1:c.967G>T (PRODH)	XP_011528580.1:p.Gly323Cys
XM_011530279.1:c.760G>T (PRODH)	XP_011528581.1:p.Gly254Cys
XR_937876.1:n.1607G>T (PRODH)
NM_005675.5:c.*1824C>A (DGCR6)	NP_005666.2:n.*1824C>A
NM_001195226.2:c.1216G>T (PRODH)	NP_001182155.2:p.Gly406Cys
NM_016335.5:c.1540G>T (PRODH)	NP_057419.5:p.Gly514Cys
NM_016335.6:c.1540G>T (PRODH) MANE Select	NP_057419.5:p.Gly514Cys