Canonical Allele Identifier: CA412725707
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411886T>G , CM000685.2:g.38411886T>G GRCh38
NC_000023.10:g.38271139T>G , CM000685.1:g.38271139T>G GRCh37
NC_000023.9:g.38156083T>G NCBI36
NG_008471.1:g.64404T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.892T>G MANE Select ENSP00000039007.4:p.Trp298Gly
ENST00000643344.1:c.*642T>G ENSP00000496606.1:n.*642T>G
ENST00000039007.4:c.892T>G ENSP00000039007.4:p.Trp298Gly
ENST00000465127.1:c.172-254235T>G ENSP00000417050.1:n.172-254235T>G
NM_000531.5:c.892T>G NP_000522.3:p.Trp298Gly
NM_000531.6:c.892T>G MANE Select NP_000522.3:p.Trp298Gly