Canonical Allele Identifier: CA410637867

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913260T>C , CM000684.2:g.18913260T>C GRCh38
NC_000022.10:g.18900773T>C , CM000684.1:g.18900773T>C GRCh37
NC_000022.9:g.17280773T>C NCBI36
NG_008226.2:g.28294A>G
NG_009052.1:g.12038T>C
NG_008226.3:g.28294A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1718A>G (PRODH) MANE Select ENSP00000349577.6:p.Lys573Arg
ENST00000638240.1:c.513+2232T>C ENSP00000492446.1:n.513+2232T>C
ENST00000313755.9:n.2483A>G (PRODH)
ENST00000334029.6:c.1394A>G (PRODH) ENSP00000334726.2:p.Lys465Arg
ENST00000357068.10:c.1718A>G (PRODH) ENSP00000349577.6:p.Lys573Arg
ENST00000420436.5:c.1394A>G (PRODH) ENSP00000410805.1:p.Lys465Arg
ENST00000429300.5:n.2089A>G (PRODH)
ENST00000482858.5:n.4198A>G (PRODH)
ENST00000483718.5:c.*1902T>C (DGCR6) ENSP00000467483.1:n.*1902T>C
ENST00000491604.5:n.2627A>G (PRODH)
ENST00000610940.4:c.1718A>G (PRODH) ENSP00000480347.1:p.Lys573Arg
NM_001195226.1:c.1394A>G (PRODH) NP_001182155.1:p.Lys465Arg
NM_016335.4:c.1718A>G (PRODH) NP_057419.4:p.Lys573Arg
XM_011530278.1:c.1145A>G (PRODH) XP_011528580.1:p.Lys382Arg
XM_011530279.1:c.938A>G (PRODH) XP_011528581.1:p.Lys313Arg
XR_937876.1:n.1785A>G (PRODH)
NM_005675.5:c.*1571T>C (DGCR6) NP_005666.2:n.*1571T>C
NM_001195226.2:c.1394A>G (PRODH) NP_001182155.2:p.Lys465Arg
NM_016335.5:c.1718A>G (PRODH) NP_057419.5:p.Lys573Arg
NM_016335.6:c.1718A>G (PRODH) MANE Select NP_057419.5:p.Lys573Arg