Canonical Allele Identifier: CA410637651

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs1313667646
• gnomAD v2: 22-18900731-A-C
• MyVariant Identifiers: chr22:g.18900731A>C (hg19) ; chr22:g.18913218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913218A>C , CM000684.2:g.18913218A>C	GRCh38
NC_000022.10:g.18900731A>C , CM000684.1:g.18900731A>C	GRCh37
NC_000022.9:g.17280731A>C	NCBI36
NG_008226.2:g.28336T>G
NG_009052.1:g.11996A>C
NG_008226.3:g.28336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1760T>G (PRODH) MANE Select	ENSP00000349577.6:p.Leu587Trp
ENST00000638240.1:c.513+2190A>C	ENSP00000492446.1:n.513+2190A>C
ENST00000313755.9:n.2525T>G (PRODH)
ENST00000334029.6:c.1436T>G (PRODH)	ENSP00000334726.2:p.Leu479Trp
ENST00000357068.10:c.1760T>G (PRODH)	ENSP00000349577.6:p.Leu587Trp
ENST00000420436.5:c.1436T>G (PRODH)	ENSP00000410805.1:p.Leu479Trp
ENST00000429300.5:n.2131T>G (PRODH)
ENST00000482858.5:n.4240T>G (PRODH)
ENST00000483718.5:c.*1860A>C (DGCR6)	ENSP00000467483.1:n.*1860A>C
ENST00000491604.5:n.2669T>G (PRODH)
ENST00000610940.4:c.1760T>G (PRODH)	ENSP00000480347.1:p.Leu587Trp
NM_001195226.1:c.1436T>G (PRODH)	NP_001182155.1:p.Leu479Trp
NM_016335.4:c.1760T>G (PRODH)	NP_057419.4:p.Leu587Trp
XM_011530278.1:c.1187T>G (PRODH)	XP_011528580.1:p.Leu396Trp
XM_011530279.1:c.980T>G (PRODH)	XP_011528581.1:p.Leu327Trp
XR_937876.1:n.1827T>G (PRODH)
NM_005675.5:c.*1529A>C (DGCR6)	NP_005666.2:n.*1529A>C
NM_001195226.2:c.1436T>G (PRODH)	NP_001182155.2:p.Leu479Trp
NM_016335.5:c.1760T>G (PRODH)	NP_057419.5:p.Leu587Trp
NM_016335.6:c.1760T>G (PRODH) MANE Select	NP_057419.5:p.Leu587Trp