Canonical Allele Identifier: CA2395633521

Linked Data

dbSNP Id: rs1160734377

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.18913144G>C , CM000684.2:g.18913144G>C GRCh38
NC_000022.10:g.18900657G>C , CM000684.1:g.18900657G>C GRCh37
NC_000022.9:g.17280657G>C NCBI36
NG_008226.2:g.28410C>G
NG_009052.1:g.11922G>C
NG_008226.3:g.28410C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357068.11:c.*31C>G (PRODH) MANE Select ENSP00000349577.6:n.*31C>G
ENST00000638240.1:c.513+2116G>C ENSP00000492446.1:n.513+2116G>C
ENST00000313755.9:n.2599C>G (PRODH)
ENST00000334029.6:c.*31C>G (PRODH) ENSP00000334726.2:n.*31C>G
ENST00000357068.10:c.*31C>G (PRODH) ENSP00000349577.6:n.*31C>G
ENST00000420436.5:c.*31C>G (PRODH) ENSP00000410805.1:n.*31C>G
ENST00000429300.5:n.2205C>G (PRODH)
ENST00000482858.5:n.4314C>G (PRODH)
ENST00000483718.5:c.*1786G>C (DGCR6) ENSP00000467483.1:n.*1786G>C
ENST00000491604.5:n.2743C>G (PRODH)
ENST00000610940.4:c.*31C>G (PRODH) ENSP00000480347.1:n.*31C>G
NM_001195226.1:c.*31C>G (PRODH) NP_001182155.1:n.*31C>G
NM_016335.4:c.*31C>G (PRODH) NP_057419.4:n.*31C>G
XM_011530278.1:c.*31C>G (PRODH) XP_011528580.1:n.*31C>G
XM_011530279.1:c.*31C>G (PRODH) XP_011528581.1:n.*31C>G
XR_937876.1:n.1901C>G (PRODH)
NM_005675.5:c.*1455G>C (DGCR6) NP_005666.2:n.*1455G>C
NM_001195226.2:c.*31C>G (PRODH) NP_001182155.2:n.*31C>G
NM_016335.5:c.*31C>G (PRODH) NP_057419.5:n.*31C>G
NM_016335.6:c.*31C>G (PRODH) MANE Select NP_057419.5:n.*31C>G