Canonical Allele Identifier: CA2424884278
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408750G= , CM000685.2:g.38408750G= GRCh38
NC_000023.10:g.38268003G= , CM000685.1:g.38268003G= GRCh37
NC_000023.9:g.38152947G= NCBI36
NG_008471.1:g.61268G=

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.672G= MANE Select ENSP00000039007.4:p.Glu224=
ENST00000643344.1:c.*422G= ENSP00000496606.1:n.*422G=
ENST00000039007.4:c.672G= ENSP00000039007.4:p.Glu224=
ENST00000465127.1:c.172-257371G= ENSP00000417050.1:n.172-257371G=
NM_000531.5:c.672G= NP_000522.3:p.Glu224=
XM_017029556.1:c.672G= XP_016885045.1:p.Glu224=
NM_000531.6:c.672G= MANE Select NP_000522.3:p.Glu224=