Canonical Allele Identifier: CA2580099079

Gene: PRODH DGCR6

Linked Data

• ClinVar Variation Id: 2118246
• ClinVar RCV Id: RCV003053576

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913425G>C , CM000684.2:g.18913425G>C	GRCh38
NC_000022.10:g.18900938G>C , CM000684.1:g.18900938G>C	GRCh37
NC_000022.9:g.17280938G>C	NCBI36
NG_008226.2:g.28129C>G
NG_009052.1:g.12203G>C
NG_008226.3:g.28129C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1615+13C>G (PRODH) MANE Select	ENSP00000349577.6:n.1615+13C>G
ENST00000638240.1:c.513+2397G>C	ENSP00000492446.1:n.513+2397G>C
ENST00000313755.9:n.2380+13C>G (PRODH)
ENST00000334029.6:c.1291+13C>G (PRODH)	ENSP00000334726.2:n.1291+13C>G
ENST00000357068.10:c.1615+13C>G (PRODH)	ENSP00000349577.6:n.1615+13C>G
ENST00000420436.5:c.1291+13C>G (PRODH)	ENSP00000410805.1:n.1291+13C>G
ENST00000429300.5:n.1986+13C>G (PRODH)
ENST00000482858.5:n.4095+13C>G (PRODH)
ENST00000483718.5:c.*2067G>C (DGCR6)	ENSP00000467483.1:n.*2067G>C
ENST00000491604.5:n.2524+13C>G (PRODH)
ENST00000610940.4:c.1615+13C>G (PRODH)	ENSP00000480347.1:n.1615+13C>G
NM_001195226.1:c.1291+13C>G (PRODH)	NP_001182155.1:n.1291+13C>G
NM_016335.4:c.1615+13C>G (PRODH)	NP_057419.4:n.1615+13C>G
XM_011530278.1:c.1042+13C>G (PRODH)	XP_011528580.1:n.1042+13C>G
XM_011530279.1:c.835+13C>G (PRODH)	XP_011528581.1:n.835+13C>G
XR_937876.1:n.1682+13C>G (PRODH)
NM_005675.5:c.*1736G>C (DGCR6)	NP_005666.2:n.*1736G>C
NM_001195226.2:c.1291+13C>G (PRODH)	NP_001182155.2:n.1291+13C>G
NM_016335.5:c.1615+13C>G (PRODH)	NP_057419.5:n.1615+13C>G
NM_016335.6:c.1615+13C>G (PRODH) MANE Select	NP_057419.5:n.1615+13C>G