Canonical Allele Identifier: CA224686
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97253
ClinVar RCV Id: RCV000083495
dbSNP Id: rs67284661

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403654T>G , CM000685.2:g.38403654T>G GRCh38
NC_000023.10:g.38262907T>G , CM000685.1:g.38262907T>G GRCh37
NC_000023.9:g.38147851T>G NCBI36
NG_008471.1:g.56172T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.577T>G MANE Select ENSP00000039007.4:p.Trp193Gly
ENST00000643344.1:c.*327T>G ENSP00000496606.1:n.*327T>G
ENST00000039007.4:c.577T>G ENSP00000039007.4:p.Trp193Gly
ENST00000465127.1:c.172-262467T>G ENSP00000417050.1:n.172-262467T>G
ENST00000488812.1:n.614T>G
NM_000531.5:c.577T>G NP_000522.3:p.Trp193Gly
XM_017029556.1:c.577T>G XP_016885045.1:p.Trp193Gly
NM_000531.6:c.577T>G MANE Select NP_000522.3:p.Trp193Gly