Canonical Allele Identifier: CA412725489
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 2629679
ClinVar RCV Id: RCV003414315

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403673A>T , CM000685.2:g.38403673A>T GRCh38
NC_000023.10:g.38262926A>T , CM000685.1:g.38262926A>T GRCh37
NC_000023.9:g.38147870A>T NCBI36
NG_008471.1:g.56191A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.596A>T MANE Select ENSP00000039007.4:p.Asn199Ile
ENST00000643344.1:c.*346A>T ENSP00000496606.1:n.*346A>T
ENST00000039007.4:c.596A>T ENSP00000039007.4:p.Asn199Ile
ENST00000465127.1:c.172-262448A>T ENSP00000417050.1:n.172-262448A>T
NM_000531.5:c.596A>T NP_000522.3:p.Asn199Ile
XM_017029556.1:c.596A>T XP_016885045.1:p.Asn199Ile
NM_000531.6:c.596A>T MANE Select NP_000522.3:p.Asn199Ile