Canonical Allele Identifier: CA512937913

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18901003C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913490C>A , CM000684.2:g.18913490C>A	GRCh38
NC_000022.10:g.18901003C>A , CM000684.1:g.18901003C>A	GRCh37
NC_000022.9:g.17281003C>A	NCBI36
NG_008226.2:g.28064G>T
NG_009052.1:g.12268C>A
NG_008226.3:g.28064G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1563G>T (PRODH) MANE Select	ENSP00000349577.6:p.Arg521=
ENST00000638240.1:c.513+2462C>A	ENSP00000492446.1:n.513+2462C>A
ENST00000313755.9:n.2328G>T (PRODH)
ENST00000334029.6:c.1239G>T (PRODH)	ENSP00000334726.2:p.Arg413=
ENST00000357068.10:c.1563G>T (PRODH)	ENSP00000349577.6:p.Arg521=
ENST00000420436.5:c.1239G>T (PRODH)	ENSP00000410805.1:p.Arg413=
ENST00000429300.5:n.1934G>T (PRODH)
ENST00000482858.5:n.4043G>T (PRODH)
ENST00000483718.5:c.*2132C>A (DGCR6)	ENSP00000467483.1:n.*2132C>A
ENST00000491604.5:n.2472G>T (PRODH)
ENST00000610940.4:c.1563G>T (PRODH)	ENSP00000480347.1:p.Arg521=
NM_001195226.1:c.1239G>T (PRODH)	NP_001182155.1:p.Gln413His
NM_016335.4:c.1563G>T (PRODH)	NP_057419.4:p.Gln521His
XM_011530278.1:c.990G>T (PRODH)	XP_011528580.1:p.Arg330=
XM_011530279.1:c.783G>T (PRODH)	XP_011528581.1:p.Arg261=
XR_937876.1:n.1630G>T (PRODH)
NM_005675.5:c.*1801C>A (DGCR6)	NP_005666.2:n.*1801C>A
NM_001195226.2:c.1239G>T (PRODH)	NP_001182155.2:p.Arg413=
NM_016335.5:c.1563G>T (PRODH)	NP_057419.5:p.Arg521=
NM_016335.6:c.1563G>T (PRODH) MANE Select	NP_057419.5:p.Arg521=