Canonical Allele Identifier: CA2737559997

Linked Data

dbSNP Id: rs1335718749

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913420A>T , CM000684.2:g.18913420A>T GRCh38
NC_000022.10:g.18900933A>T , CM000684.1:g.18900933A>T GRCh37
NC_000022.9:g.17280933A>T NCBI36
NG_008226.2:g.28134T>A
NG_009052.1:g.12198A>T
NG_008226.3:g.28134T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.1615+18T>A (PRODH) MANE Select ENSP00000349577.6:n.1615+18T>A
ENST00000638240.1:c.513+2392A>T ENSP00000492446.1:n.513+2392A>T
ENST00000313755.9:n.2380+18T>A (PRODH)
ENST00000334029.6:c.1291+18T>A (PRODH) ENSP00000334726.2:n.1291+18T>A
ENST00000357068.10:c.1615+18T>A (PRODH) ENSP00000349577.6:n.1615+18T>A
ENST00000420436.5:c.1291+18T>A (PRODH) ENSP00000410805.1:n.1291+18T>A
ENST00000429300.5:n.1986+18T>A (PRODH)
ENST00000482858.5:n.4095+18T>A (PRODH)
ENST00000483718.5:c.*2062A>T (DGCR6) ENSP00000467483.1:n.*2062A>T
ENST00000491604.5:n.2524+18T>A (PRODH)
ENST00000610940.4:c.1615+18T>A (PRODH) ENSP00000480347.1:n.1615+18T>A
NM_001195226.1:c.1291+18T>A (PRODH) NP_001182155.1:n.1291+18T>A
NM_016335.4:c.1615+18T>A (PRODH) NP_057419.4:n.1615+18T>A
XM_011530278.1:c.1042+18T>A (PRODH) XP_011528580.1:n.1042+18T>A
XM_011530279.1:c.835+18T>A (PRODH) XP_011528581.1:n.835+18T>A
XR_937876.1:n.1682+18T>A (PRODH)
NM_005675.5:c.*1731A>T (DGCR6) NP_005666.2:n.*1731A>T
NM_001195226.2:c.1291+18T>A (PRODH) NP_001182155.2:n.1291+18T>A
NM_016335.5:c.1615+18T>A (PRODH) NP_057419.5:n.1615+18T>A
NM_016335.6:c.1615+18T>A (PRODH) MANE Select NP_057419.5:n.1615+18T>A