Canonical Allele Identifier: CA412725693
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411885C>A , CM000685.2:g.38411885C>A GRCh38
NC_000023.10:g.38271138C>A , CM000685.1:g.38271138C>A GRCh37
NC_000023.9:g.38156082C>A NCBI36
NG_008471.1:g.64403C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.891C>A MANE Select ENSP00000039007.4:p.Asp297Glu
ENST00000643344.1:c.*641C>A ENSP00000496606.1:n.*641C>A
ENST00000039007.4:c.891C>A ENSP00000039007.4:p.Asp297Glu
ENST00000465127.1:c.172-254236C>A ENSP00000417050.1:n.172-254236C>A
NM_000531.5:c.891C>A NP_000522.3:p.Asp297Glu
NM_000531.6:c.891C>A MANE Select NP_000522.3:p.Asp297Glu