Canonical Allele Identifier: CA2847909904

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913546A>C , CM000684.2:g.18913546A>C GRCh38
NC_000022.10:g.18901059A>C , CM000684.1:g.18901059A>C GRCh37
NC_000022.9:g.17281059A>C NCBI36
NG_008226.2:g.28008T>G
NG_009052.1:g.12324A>C
NG_008226.3:g.28008T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1527-20T>G (PRODH) MANE Select ENSP00000349577.6:n.1527-20T>G
ENST00000638240.1:c.513+2518A>C ENSP00000492446.1:n.513+2518A>C
ENST00000313755.9:n.2292-20T>G (PRODH)
ENST00000334029.6:c.1203-20T>G (PRODH) ENSP00000334726.2:n.1203-20T>G
ENST00000357068.10:c.1527-20T>G (PRODH) ENSP00000349577.6:n.1527-20T>G
ENST00000420436.5:c.1203-20T>G (PRODH) ENSP00000410805.1:n.1203-20T>G
ENST00000429300.5:n.1898-20T>G (PRODH)
ENST00000482858.5:n.4007-20T>G (PRODH)
ENST00000483718.5:c.*2188A>C (DGCR6) ENSP00000467483.1:n.*2188A>C
ENST00000491604.5:n.2436-20T>G (PRODH)
ENST00000610940.4:c.1527-20T>G (PRODH) ENSP00000480347.1:n.1527-20T>G
NM_001195226.1:c.1203-20T>G (PRODH) NP_001182155.1:n.1203-20T>G
NM_016335.4:c.1527-20T>G (PRODH) NP_057419.4:n.1527-20T>G
XM_011530278.1:c.954-20T>G (PRODH) XP_011528580.1:n.954-20T>G
XM_011530279.1:c.747-20T>G (PRODH) XP_011528581.1:n.747-20T>G
XR_937876.1:n.1594-20T>G (PRODH)
NM_005675.5:c.*1857A>C (DGCR6) NP_005666.2:n.*1857A>C
NM_001195226.2:c.1203-20T>G (PRODH) NP_001182155.2:n.1203-20T>G
NM_016335.5:c.1527-20T>G (PRODH) NP_057419.5:n.1527-20T>G
NM_016335.6:c.1527-20T>G (PRODH) MANE Select NP_057419.5:n.1527-20T>G