Canonical Allele Identifier: CA515650493
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401389C>T , CM000685.2:g.38401389C>T GRCh38
NC_000023.10:g.38260642C>T , CM000685.1:g.38260642C>T GRCh37
NC_000023.9:g.38145586C>T NCBI36
NG_008471.1:g.53907C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.501C>T MANE Select ENSP00000039007.4:p.Tyr167=
ENST00000643344.1:c.*251C>T ENSP00000496606.1:n.*251C>T
ENST00000039007.4:c.501C>T ENSP00000039007.4:p.Tyr167=
ENST00000465127.1:c.172-264732C>T ENSP00000417050.1:n.172-264732C>T
ENST00000488812.1:n.538C>T
NM_000531.5:c.501C>T NP_000522.3:p.Tyr167=
XM_017029556.1:c.501C>T XP_016885045.1:p.Tyr167=
NM_000531.6:c.501C>T MANE Select NP_000522.3:p.Tyr167=