Canonical Allele Identifier: CA410637648

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs200558157
• gnomAD v3: 22-18913217-C-G
• gnomAD v4: 22-18913217-C-G
• MyVariant Identifiers: chr22:g.18900730C>G (hg19) ; chr22:g.18913217C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913217C>G , CM000684.2:g.18913217C>G	GRCh38
NC_000022.10:g.18900730C>G , CM000684.1:g.18900730C>G	GRCh37
NC_000022.9:g.17280730C>G	NCBI36
NG_008226.2:g.28337G>C
NG_009052.1:g.11995C>G
NG_008226.3:g.28337G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1761G>C (PRODH) MANE Select	ENSP00000349577.6:p.Leu587Phe
ENST00000638240.1:c.513+2189C>G	ENSP00000492446.1:n.513+2189C>G
ENST00000313755.9:n.2526G>C (PRODH)
ENST00000334029.6:c.1437G>C (PRODH)	ENSP00000334726.2:p.Leu479Phe
ENST00000357068.10:c.1761G>C (PRODH)	ENSP00000349577.6:p.Leu587Phe
ENST00000420436.5:c.1437G>C (PRODH)	ENSP00000410805.1:p.Leu479Phe
ENST00000429300.5:n.2132G>C (PRODH)
ENST00000482858.5:n.4241G>C (PRODH)
ENST00000483718.5:c.*1859C>G (DGCR6)	ENSP00000467483.1:n.*1859C>G
ENST00000491604.5:n.2670G>C (PRODH)
ENST00000610940.4:c.1761G>C (PRODH)	ENSP00000480347.1:p.Leu587Phe
NM_001195226.1:c.1437G>C (PRODH)	NP_001182155.1:p.Leu479Phe
NM_016335.4:c.1761G>C (PRODH)	NP_057419.4:p.Leu587Phe
XM_011530278.1:c.1188G>C (PRODH)	XP_011528580.1:p.Leu396Phe
XM_011530279.1:c.981G>C (PRODH)	XP_011528581.1:p.Leu327Phe
XR_937876.1:n.1828G>C (PRODH)
NM_005675.5:c.*1528C>G (DGCR6)	NP_005666.2:n.*1528C>G
NM_001195226.2:c.1437G>C (PRODH)	NP_001182155.2:p.Leu479Phe
NM_016335.5:c.1761G>C (PRODH)	NP_057419.5:p.Leu587Phe
NM_016335.6:c.1761G>C (PRODH) MANE Select	NP_057419.5:p.Leu587Phe