Canonical Allele Identifier: CA410639298

Gene: PRODH DGCR6

Linked Data

• MyVariant Identifiers: chr22:g.18901037A>G (hg19) ; chr22:g.18913524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.18913524A>G , CM000684.2:g.18913524A>G	GRCh38
NC_000022.10:g.18901037A>G , CM000684.1:g.18901037A>G	GRCh37
NC_000022.9:g.17281037A>G	NCBI36
NG_008226.2:g.28030T>C
NG_009052.1:g.12302A>G
NG_008226.3:g.28030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357068.11:c.1529T>C (PRODH) MANE Select	ENSP00000349577.6:p.Met510Thr
ENST00000638240.1:c.513+2496A>G	ENSP00000492446.1:n.513+2496A>G
ENST00000313755.9:n.2294T>C (PRODH)
ENST00000334029.6:c.1205T>C (PRODH)	ENSP00000334726.2:p.Met402Thr
ENST00000357068.10:c.1529T>C (PRODH)	ENSP00000349577.6:p.Met510Thr
ENST00000420436.5:c.1205T>C (PRODH)	ENSP00000410805.1:p.Met402Thr
ENST00000429300.5:n.1900T>C (PRODH)
ENST00000482858.5:n.4009T>C (PRODH)
ENST00000483718.5:c.*2166A>G (DGCR6)	ENSP00000467483.1:n.*2166A>G
ENST00000491604.5:n.2438T>C (PRODH)
ENST00000610940.4:c.1529T>C (PRODH)	ENSP00000480347.1:p.Met510Thr
NM_001195226.1:c.1205T>C (PRODH)	NP_001182155.1:p.Met402Thr
NM_016335.4:c.1529T>C (PRODH)	NP_057419.4:p.Met510Thr
XM_011530278.1:c.956T>C (PRODH)	XP_011528580.1:p.Met319Thr
XM_011530279.1:c.749T>C (PRODH)	XP_011528581.1:p.Met250Thr
XR_937876.1:n.1596T>C (PRODH)
NM_005675.5:c.*1835A>G (DGCR6)	NP_005666.2:n.*1835A>G
NM_001195226.2:c.1205T>C (PRODH)	NP_001182155.2:p.Met402Thr
NM_016335.5:c.1529T>C (PRODH)	NP_057419.5:p.Met510Thr
NM_016335.6:c.1529T>C (PRODH) MANE Select	NP_057419.5:p.Met510Thr