Canonical Allele Identifier: CA2424884407
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409074C= , CM000685.2:g.38409074C= GRCh38
NC_000023.10:g.38268327C= , CM000685.1:g.38268327C= GRCh37
NC_000023.9:g.38153271C= NCBI36
NG_008471.1:g.61592C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.867+49C= MANE Select ENSP00000039007.4:n.867+49C=
ENST00000643344.1:c.*617+49C= ENSP00000496606.1:n.*617+49C=
ENST00000039007.4:c.867+49C= ENSP00000039007.4:n.867+49C=
ENST00000465127.1:c.172-257047C= ENSP00000417050.1:n.172-257047C=
NM_000531.5:c.867+49C= NP_000522.3:n.867+49C=
XM_017029556.1:c.867+49C= XP_016885045.1:n.867+49C=
NM_000531.6:c.867+49C= MANE Select NP_000522.3:n.867+49C=