Canonical Allele Identifier: CA410639053

Gene: PRODH DGCR6

Linked Data

• dbSNP Id: rs450046
• gnomAD v4: 22-18913491-C-G
• MyVariant Identifiers: chr22:g.18901004C>G (hg19) ; chr22:g.18913491C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913491C>G , CM000684.2:g.18913491C>G	GRCh38
NC_000022.10:g.18901004C>G , CM000684.1:g.18901004C>G	GRCh37
NC_000022.9:g.17281004C>G	NCBI36
NG_009052.1:g.12269C>G
NG_008226.3:g.28063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1562G>C (PRODH) MANE Select	ENSP00000349577.6:p.Arg521Pro
ENST00000638240.1:c.513+2463C>G	ENSP00000492446.1:n.513+2463C>G
ENST00000313755.9:n.2327G>C (PRODH)
ENST00000334029.6:c.1238G>C (PRODH)	ENSP00000334726.2:p.Arg413Pro
ENST00000357068.10:c.1562G>C (PRODH)	ENSP00000349577.6:p.Arg521Pro
ENST00000420436.5:c.1238G>C (PRODH)	ENSP00000410805.1:p.Arg413Pro
ENST00000429300.5:n.1933G>C (PRODH)
ENST00000482858.5:n.4042G>C (PRODH)
ENST00000483718.5:c.*2133C>G (DGCR6)	ENSP00000467483.1:n.*2133C>G
ENST00000491604.5:n.2471G>C (PRODH)
ENST00000610940.4:c.1562G>C (PRODH)	ENSP00000480347.1:p.Arg521Pro
XM_011530278.1:c.989G>C (PRODH)	XP_011528580.1:p.Arg330Pro
XM_011530279.1:c.782G>C (PRODH)	XP_011528581.1:p.Arg261Pro
XR_937876.1:n.1629G>C (PRODH)
NM_005675.5:c.*1802C>G (DGCR6)	NP_005666.2:n.*1802C>G
NM_001195226.2:c.1238G>C (PRODH)	NP_001182155.2:p.Arg413Pro
NM_016335.5:c.1562G>C (PRODH)	NP_057419.5:p.Arg521Pro
NM_016335.6:c.1562G>C (PRODH) MANE Select	NP_057419.5:p.Arg521Pro