Canonical Allele Identifier: CA2655228908

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913163T>G , CM000684.2:g.18913163T>G GRCh38
NC_000022.10:g.18900676T>G , CM000684.1:g.18900676T>G GRCh37
NC_000022.9:g.17280676T>G NCBI36
NG_008226.2:g.28391A>C
NG_009052.1:g.11941T>G
NG_008226.3:g.28391A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.*12A>C (PRODH) MANE Select ENSP00000349577.6:n.*12A>C
ENST00000638240.1:c.513+2135T>G ENSP00000492446.1:n.513+2135T>G
ENST00000313755.9:n.2580A>C (PRODH)
ENST00000334029.6:c.*12A>C (PRODH) ENSP00000334726.2:n.*12A>C
ENST00000357068.10:c.*12A>C (PRODH) ENSP00000349577.6:n.*12A>C
ENST00000420436.5:c.*12A>C (PRODH) ENSP00000410805.1:n.*12A>C
ENST00000429300.5:n.2186A>C (PRODH)
ENST00000482858.5:n.4295A>C (PRODH)
ENST00000483718.5:c.*1805T>G (DGCR6) ENSP00000467483.1:n.*1805T>G
ENST00000491604.5:n.2724A>C (PRODH)
ENST00000610940.4:c.*12A>C (PRODH) ENSP00000480347.1:n.*12A>C
NM_001195226.1:c.*12A>C (PRODH) NP_001182155.1:n.*12A>C
NM_016335.4:c.*12A>C (PRODH) NP_057419.4:n.*12A>C
XM_011530278.1:c.*12A>C (PRODH) XP_011528580.1:n.*12A>C
XM_011530279.1:c.*12A>C (PRODH) XP_011528581.1:n.*12A>C
XR_937876.1:n.1882A>C (PRODH)
NM_005675.5:c.*1474T>G (DGCR6) NP_005666.2:n.*1474T>G
NM_001195226.2:c.*12A>C (PRODH) NP_001182155.2:n.*12A>C
NM_016335.5:c.*12A>C (PRODH) NP_057419.5:n.*12A>C
NM_016335.6:c.*12A>C (PRODH) MANE Select NP_057419.5:n.*12A>C