Canonical Allele Identifier: CA412716879
Gene: OTC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369823T>G , CM000685.2:g.38369823T>G GRCh38
NC_000023.10:g.38229076T>G , CM000685.1:g.38229076T>G GRCh37
NC_000023.9:g.38114020T>G NCBI36
NG_008471.1:g.22341T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.244T>G MANE Select ENSP00000039007.4:p.Leu82Val
ENST00000643344.1:c.244T>G ENSP00000496606.1:p.Leu82Val
ENST00000039007.4:c.244T>G ENSP00000039007.4:p.Leu82Val
ENST00000465127.1:c.172-296298T>G ENSP00000417050.1:n.172-296298T>G
ENST00000488812.1:n.336T>G
NM_000531.5:c.244T>G NP_000522.3:p.Leu82Val
XM_017029556.1:c.244T>G XP_016885045.1:p.Leu82Val
NM_000531.6:c.244T>G MANE Select NP_000522.3:p.Leu82Val