Canonical Allele Identifier: CA2424870832
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367384A= , CM000685.2:g.38367384A= GRCh38
NC_000023.10:g.38226637A= , CM000685.1:g.38226637A= GRCh37
NC_000023.9:g.38111581A= NCBI36
NG_008471.1:g.19902A=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.171A= MANE Select ENSP00000039007.4:p.Leu57=
ENST00000643344.1:c.171A= ENSP00000496606.1:p.Leu57=
ENST00000039007.4:c.171A= ENSP00000039007.4:p.Leu57=
ENST00000465127.1:c.172-298737A= ENSP00000417050.1:n.172-298737A=
ENST00000488812.1:n.263A=
NM_000531.5:c.171A= NP_000522.3:p.Leu57=
XM_017029556.1:c.171A= XP_016885045.1:p.Leu57=
NM_000531.6:c.171A= MANE Select NP_000522.3:p.Leu57=