Canonical Allele Identifier: CA512937905

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18901000C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913487C>G , CM000684.2:g.18913487C>G	GRCh38
NC_000022.10:g.18901000C>G , CM000684.1:g.18901000C>G	GRCh37
NC_000022.9:g.17281000C>G	NCBI36
NG_008226.2:g.28067G>C
NG_009052.1:g.12265C>G
NG_008226.3:g.28067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1566G>C (PRODH) MANE Select	ENSP00000349577.6:p.Val522=
ENST00000638240.1:c.513+2459C>G	ENSP00000492446.1:n.513+2459C>G
ENST00000313755.9:n.2331G>C (PRODH)
ENST00000334029.6:c.1242G>C (PRODH)	ENSP00000334726.2:p.Val414=
ENST00000357068.10:c.1566G>C (PRODH)	ENSP00000349577.6:p.Val522=
ENST00000420436.5:c.1242G>C (PRODH)	ENSP00000410805.1:p.Val414=
ENST00000429300.5:n.1937G>C (PRODH)
ENST00000482858.5:n.4046G>C (PRODH)
ENST00000483718.5:c.*2129C>G (DGCR6)	ENSP00000467483.1:n.*2129C>G
ENST00000491604.5:n.2475G>C (PRODH)
ENST00000610940.4:c.1566G>C (PRODH)	ENSP00000480347.1:p.Val522=
NM_001195226.1:c.1242G>C (PRODH)	NP_001182155.1:p.Val414=
NM_016335.4:c.1566G>C (PRODH)	NP_057419.4:p.Val522=
XM_011530278.1:c.993G>C (PRODH)	XP_011528580.1:p.Val331=
XM_011530279.1:c.786G>C (PRODH)	XP_011528581.1:p.Val262=
XR_937876.1:n.1633G>C (PRODH)
NM_005675.5:c.*1798C>G (DGCR6)	NP_005666.2:n.*1798C>G
NM_001195226.2:c.1242G>C (PRODH)	NP_001182155.2:p.Val414=
NM_016335.5:c.1566G>C (PRODH)	NP_057419.5:p.Val522=
NM_016335.6:c.1566G>C (PRODH) MANE Select	NP_057419.5:p.Val522=