Canonical Allele Identifier: CA2579584794
Gene: OTC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401215T>G , CM000685.2:g.38401215T>G GRCh38
NC_000023.10:g.38260468T>G , CM000685.1:g.38260468T>G GRCh37
NC_000023.9:g.38145412T>G NCBI36
NG_008471.1:g.53733T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.387-60T>G MANE Select ENSP00000039007.4:n.387-60T>G
ENST00000643344.1:c.*137-60T>G ENSP00000496606.1:n.*137-60T>G
ENST00000039007.4:c.387-60T>G ENSP00000039007.4:n.387-60T>G
ENST00000465127.1:c.172-264906T>G ENSP00000417050.1:n.172-264906T>G
ENST00000488812.1:n.424-60T>G
NM_000531.5:c.387-60T>G NP_000522.3:n.387-60T>G
XM_017029556.1:c.387-60T>G XP_016885045.1:n.387-60T>G
NM_000531.6:c.387-60T>G MANE Select NP_000522.3:n.387-60T>G