Canonical Allele Identifier: CA2424871719
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369955G= , CM000685.2:g.38369955G= GRCh38
NC_000023.10:g.38229208G= , CM000685.1:g.38229208G= GRCh37
NC_000023.9:g.38114152G= NCBI36
NG_008471.1:g.22473G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+78G= MANE Select ENSP00000039007.4:n.298+78G=
ENST00000643344.1:c.298+78G= ENSP00000496606.1:n.298+78G=
ENST00000039007.4:c.298+78G= ENSP00000039007.4:n.298+78G=
ENST00000465127.1:c.172-296166G= ENSP00000417050.1:n.172-296166G=
ENST00000488812.1:n.353+115G=
NM_000531.5:c.298+78G= NP_000522.3:n.298+78G=
XM_017029556.1:c.298+78G= XP_016885045.1:n.298+78G=
NM_000531.6:c.298+78G= MANE Select NP_000522.3:n.298+78G=