Canonical Allele Identifier: CA1132412376
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367281C>T , CM000685.2:g.38367281C>T GRCh38
NC_000023.10:g.38226534C>T , CM000685.1:g.38226534C>T GRCh37
NC_000023.9:g.38111478C>T NCBI36
NG_008471.1:g.19799C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.78-10C>T MANE Select ENSP00000039007.4:n.78-10C>T
ENST00000643344.1:c.78-10C>T ENSP00000496606.1:n.78-10C>T
ENST00000039007.4:c.78-10C>T ENSP00000039007.4:n.78-10C>T
ENST00000465127.1:c.172-298840C>T ENSP00000417050.1:n.172-298840C>T
ENST00000488812.1:n.170-10C>T
NM_000531.5:c.78-10C>T NP_000522.3:n.78-10C>T
XM_017029556.1:c.78-10C>T XP_016885045.1:n.78-10C>T
NM_000531.6:c.78-10C>T MANE Select NP_000522.3:n.78-10C>T