Canonical Allele Identifier: CA2818372244

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913426G>T , CM000684.2:g.18913426G>T GRCh38
NC_000022.10:g.18900939G>T , CM000684.1:g.18900939G>T GRCh37
NC_000022.9:g.17280939G>T NCBI36
NG_008226.2:g.28128C>A
NG_009052.1:g.12204G>T
NG_008226.3:g.28128C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1615+12C>A (PRODH) MANE Select ENSP00000349577.6:n.1615+12C>A
ENST00000638240.1:c.513+2398G>T ENSP00000492446.1:n.513+2398G>T
ENST00000313755.9:n.2380+12C>A (PRODH)
ENST00000334029.6:c.1291+12C>A (PRODH) ENSP00000334726.2:n.1291+12C>A
ENST00000357068.10:c.1615+12C>A (PRODH) ENSP00000349577.6:n.1615+12C>A
ENST00000420436.5:c.1291+12C>A (PRODH) ENSP00000410805.1:n.1291+12C>A
ENST00000429300.5:n.1986+12C>A (PRODH)
ENST00000482858.5:n.4095+12C>A (PRODH)
ENST00000483718.5:c.*2068G>T (DGCR6) ENSP00000467483.1:n.*2068G>T
ENST00000491604.5:n.2524+12C>A (PRODH)
ENST00000610940.4:c.1615+12C>A (PRODH) ENSP00000480347.1:n.1615+12C>A
NM_001195226.1:c.1291+12C>A (PRODH) NP_001182155.1:n.1291+12C>A
NM_016335.4:c.1615+12C>A (PRODH) NP_057419.4:n.1615+12C>A
XM_011530278.1:c.1042+12C>A (PRODH) XP_011528580.1:n.1042+12C>A
XM_011530279.1:c.835+12C>A (PRODH) XP_011528581.1:n.835+12C>A
XR_937876.1:n.1682+12C>A (PRODH)
NM_005675.5:c.*1737G>T (DGCR6) NP_005666.2:n.*1737G>T
NM_001195226.2:c.1291+12C>A (PRODH) NP_001182155.2:n.1291+12C>A
NM_016335.5:c.1615+12C>A (PRODH) NP_057419.5:n.1615+12C>A
NM_016335.6:c.1615+12C>A (PRODH) MANE Select NP_057419.5:n.1615+12C>A