Canonical Allele Identifier: CA2424871801
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38370181G= , CM000685.2:g.38370181G= GRCh38
NC_000023.10:g.38229434G= , CM000685.1:g.38229434G= GRCh37
NC_000023.9:g.38114378G= NCBI36
NG_008471.1:g.22699G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.298+304G= MANE Select ENSP00000039007.4:n.298+304G=
ENST00000643344.1:c.298+304G= ENSP00000496606.1:n.298+304G=
ENST00000039007.4:c.298+304G= ENSP00000039007.4:n.298+304G=
ENST00000465127.1:c.172-295940G= ENSP00000417050.1:n.172-295940G=
ENST00000488812.1:n.353+341G=
NM_000531.5:c.298+304G= NP_000522.3:n.298+304G=
XM_017029556.1:c.298+304G= XP_016885045.1:n.298+304G=
NM_000531.6:c.298+304G= MANE Select NP_000522.3:n.298+304G=