Canonical Allele Identifier: CA10094900

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 1223981
• ClinVar RCV Id: RCV001596775
• dbSNP Id: rs385440
• ExAC: 22:18901090 A / G
• gnomAD v2: 22-18901090-A-G
• gnomAD v3: 22-18913577-A-G
• gnomAD v4: 22-18913577-A-G
• MyVariant Identifiers: chr22:g.18901090A>G (hg19) ; chr22:g.18913577A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913577A>G , CM000684.2:g.18913577A>G	GRCh38
NC_000022.10:g.18901090A>G , CM000684.1:g.18901090A>G	GRCh37
NC_000022.9:g.17281090A>G	NCBI36
NG_008226.2:g.27977T>C
NG_009052.1:g.12355A>G
NG_008226.3:g.27977T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1527-51T>C (PRODH) MANE Select	ENSP00000349577.6:n.1527-51T>C
ENST00000638240.1:c.513+2549A>G	ENSP00000492446.1:n.513+2549A>G
ENST00000313755.9:n.2292-51T>C (PRODH)
ENST00000334029.6:c.1203-51T>C (PRODH)	ENSP00000334726.2:n.1203-51T>C
ENST00000357068.10:c.1527-51T>C (PRODH)	ENSP00000349577.6:n.1527-51T>C
ENST00000420436.5:c.1203-51T>C (PRODH)	ENSP00000410805.1:n.1203-51T>C
ENST00000429300.5:n.1898-51T>C (PRODH)
ENST00000482858.5:n.4007-51T>C (PRODH)
ENST00000483718.5:c.*2219A>G (DGCR6)	ENSP00000467483.1:n.*2219A>G
ENST00000491604.5:n.2436-51T>C (PRODH)
ENST00000610940.4:c.1527-51T>C (PRODH)	ENSP00000480347.1:n.1527-51T>C
NM_001195226.1:c.1203-51T>C (PRODH)	NP_001182155.1:n.1203-51T>C
NM_016335.4:c.1527-51T>C (PRODH)	NP_057419.4:n.1527-51T>C
XM_011530278.1:c.954-51T>C (PRODH)	XP_011528580.1:n.954-51T>C
XM_011530279.1:c.747-51T>C (PRODH)	XP_011528581.1:n.747-51T>C
XR_937876.1:n.1594-51T>C (PRODH)
NM_005675.5:c.*1888A>G (DGCR6)	NP_005666.2:n.*1888A>G
NM_001195226.2:c.1203-51T>C (PRODH)	NP_001182155.2:n.1203-51T>C
NM_016335.5:c.1527-51T>C (PRODH)	NP_057419.5:n.1527-51T>C
NM_016335.6:c.1527-51T>C (PRODH) MANE Select	NP_057419.5:n.1527-51T>C