Canonical Allele Identifier: CA410639011

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913485T>C , CM000684.2:g.18913485T>C GRCh38
NC_000022.10:g.18900998T>C , CM000684.1:g.18900998T>C GRCh37
NC_000022.9:g.17280998T>C NCBI36
NG_008226.2:g.28069A>G
NG_009052.1:g.12263T>C
NG_008226.3:g.28069A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1568A>G (PRODH) MANE Select ENSP00000349577.6:p.Tyr523Cys
ENST00000638240.1:c.513+2457T>C ENSP00000492446.1:n.513+2457T>C
ENST00000313755.9:n.2333A>G (PRODH)
ENST00000334029.6:c.1244A>G (PRODH) ENSP00000334726.2:p.Tyr415Cys
ENST00000357068.10:c.1568A>G (PRODH) ENSP00000349577.6:p.Tyr523Cys
ENST00000420436.5:c.1244A>G (PRODH) ENSP00000410805.1:p.Tyr415Cys
ENST00000429300.5:n.1939A>G (PRODH)
ENST00000482858.5:n.4048A>G (PRODH)
ENST00000483718.5:c.*2127T>C (DGCR6) ENSP00000467483.1:n.*2127T>C
ENST00000491604.5:n.2477A>G (PRODH)
ENST00000610940.4:c.1568A>G (PRODH) ENSP00000480347.1:p.Tyr523Cys
NM_001195226.1:c.1244A>G (PRODH) NP_001182155.1:p.Tyr415Cys
NM_016335.4:c.1568A>G (PRODH) NP_057419.4:p.Tyr523Cys
XM_011530278.1:c.995A>G (PRODH) XP_011528580.1:p.Tyr332Cys
XM_011530279.1:c.788A>G (PRODH) XP_011528581.1:p.Tyr263Cys
XR_937876.1:n.1635A>G (PRODH)
NM_005675.5:c.*1796T>C (DGCR6) NP_005666.2:n.*1796T>C
NM_001195226.2:c.1244A>G (PRODH) NP_001182155.2:p.Tyr415Cys
NM_016335.5:c.1568A>G (PRODH) NP_057419.5:p.Tyr523Cys
NM_016335.6:c.1568A>G (PRODH) MANE Select NP_057419.5:p.Tyr523Cys