Canonical Allele Identifier: CA121291
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 10994
dbSNP Id: rs1800321

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367350A>G , CM000685.2:g.38367350A>G GRCh38
NC_000023.10:g.38226603A>G , CM000685.1:g.38226603A>G GRCh37
NC_000023.9:g.38111547A>G NCBI36
NG_008471.1:g.19868A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.137A>G MANE Select ENSP00000039007.4:p.Lys46Arg
ENST00000643344.1:c.137A>G ENSP00000496606.1:p.Lys46Arg
ENST00000039007.4:c.137A>G ENSP00000039007.4:p.Lys46Arg
ENST00000465127.1:c.172-298771A>G ENSP00000417050.1:n.172-298771A>G
ENST00000488812.1:n.229A>G
NM_000531.5:c.137A>G NP_000522.3:p.Lys46Arg
XM_017029556.1:c.137A>G XP_016885045.1:p.Lys46Arg
NM_000531.6:c.137A>G MANE Select NP_000522.3:p.Lys46Arg