Canonical Allele Identifier: CA2424871685
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369854G= , CM000685.2:g.38369854G= GRCh38
NC_000023.10:g.38229107G= , CM000685.1:g.38229107G= GRCh37
NC_000023.9:g.38114051G= NCBI36
NG_008471.1:g.22372G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.275G= MANE Select ENSP00000039007.4:p.Arg92=
ENST00000643344.1:c.275G= ENSP00000496606.1:p.Arg92=
ENST00000039007.4:c.275G= ENSP00000039007.4:p.Arg92=
ENST00000465127.1:c.172-296267G= ENSP00000417050.1:n.172-296267G=
ENST00000488812.1:n.353+14G=
NM_000531.5:c.275G= NP_000522.3:p.Arg92=
XM_017029556.1:c.275G= XP_016885045.1:p.Arg92=
NM_000531.6:c.275G= MANE Select NP_000522.3:p.Arg92=