Canonical Allele Identifier: CA224445
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97101
ClinVar RCV Id: RCV000083326
dbSNP Id: rs72558492

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38421051A>G , CM000685.2:g.38421051A>G GRCh38
NC_000023.10:g.38280304A>G , CM000685.1:g.38280304A>G GRCh37
NC_000023.9:g.38165248A>G NCBI36
NG_008471.1:g.73569A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.1034A>G MANE Select ENSP00000039007.4:p.Tyr345Cys
ENST00000643344.1:c.*784A>G ENSP00000496606.1:n.*784A>G
ENST00000039007.4:c.1034A>G ENSP00000039007.4:p.Tyr345Cys
ENST00000465127.1:c.172-245070A>G ENSP00000417050.1:n.172-245070A>G
NM_000531.5:c.1034A>G NP_000522.3:p.Tyr345Cys
NM_000531.6:c.1034A>G MANE Select NP_000522.3:p.Tyr345Cys