Canonical Allele Identifier: CA412725189
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403627A>G , CM000685.2:g.38403627A>G GRCh38
NC_000023.10:g.38262880A>G , CM000685.1:g.38262880A>G GRCh37
NC_000023.9:g.38147824A>G NCBI36
NG_008471.1:g.56145A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.550A>G MANE Select ENSP00000039007.4:p.Ser184Gly
ENST00000643344.1:c.*300A>G ENSP00000496606.1:n.*300A>G
ENST00000039007.4:c.550A>G ENSP00000039007.4:p.Ser184Gly
ENST00000465127.1:c.172-262494A>G ENSP00000417050.1:n.172-262494A>G
ENST00000488812.1:n.587A>G
NM_000531.5:c.550A>G NP_000522.3:p.Ser184Gly
XM_017029556.1:c.550A>G XP_016885045.1:p.Ser184Gly
NM_000531.6:c.550A>G MANE Select NP_000522.3:p.Ser184Gly