Canonical Allele Identifier: CA412725500
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403675A>T , CM000685.2:g.38403675A>T GRCh38
NC_000023.10:g.38262928A>T , CM000685.1:g.38262928A>T GRCh37
NC_000023.9:g.38147872A>T NCBI36
NG_008471.1:g.56193A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.598A>T MANE Select ENSP00000039007.4:p.Ile200Phe
ENST00000643344.1:c.*348A>T ENSP00000496606.1:n.*348A>T
ENST00000039007.4:c.598A>T ENSP00000039007.4:p.Ile200Phe
ENST00000465127.1:c.172-262446A>T ENSP00000417050.1:n.172-262446A>T
NM_000531.5:c.598A>T NP_000522.3:p.Ile200Phe
XM_017029556.1:c.598A>T XP_016885045.1:p.Ile200Phe
NM_000531.6:c.598A>T MANE Select NP_000522.3:p.Ile200Phe