Canonical Allele Identifier: CA412725595
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 949644
ClinVar RCV Id: RCV001221148
dbSNP Id: rs72558408

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403681C>G , CM000685.2:g.38403681C>G GRCh38
NC_000023.10:g.38262934C>G , CM000685.1:g.38262934C>G GRCh37
NC_000023.9:g.38147878C>G NCBI36
NG_008471.1:g.56199C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.604C>G MANE Select ENSP00000039007.4:p.His202Asp
ENST00000643344.1:c.*354C>G ENSP00000496606.1:n.*354C>G
ENST00000039007.4:c.604C>G ENSP00000039007.4:p.His202Asp
ENST00000465127.1:c.172-262440C>G ENSP00000417050.1:n.172-262440C>G
NM_000531.5:c.604C>G NP_000522.3:p.His202Asp
XM_017029556.1:c.604C>G XP_016885045.1:p.His202Asp
NM_000531.6:c.604C>G MANE Select NP_000522.3:p.His202Asp