Canonical Allele Identifier: CA412722391
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 870329
ClinVar RCV Id: RCV001089873
dbSNP Id: rs72558437

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408898C>G , CM000685.2:g.38408898C>G GRCh38
NC_000023.10:g.38268151C>G , CM000685.1:g.38268151C>G GRCh37
NC_000023.9:g.38153095C>G NCBI36
NG_008471.1:g.61416C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.740C>G MANE Select ENSP00000039007.4:p.Thr247Arg
ENST00000643344.1:c.*490C>G ENSP00000496606.1:n.*490C>G
ENST00000039007.4:c.740C>G ENSP00000039007.4:p.Thr247Arg
ENST00000465127.1:c.172-257223C>G ENSP00000417050.1:n.172-257223C>G
NM_000531.5:c.740C>G NP_000522.3:p.Thr247Arg
XM_017029556.1:c.740C>G XP_016885045.1:p.Thr247Arg
NM_000531.6:c.740C>G MANE Select NP_000522.3:p.Thr247Arg