Canonical Allele Identifier: CA224790
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97327
ClinVar RCV Id: RCV000083574
dbSNP Id: rs67156896

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408949C>A , CM000685.2:g.38408949C>A GRCh38
NC_000023.10:g.38268202C>A , CM000685.1:g.38268202C>A GRCh37
NC_000023.9:g.38153146C>A NCBI36
NG_008471.1:g.61467C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.791C>A MANE Select ENSP00000039007.4:p.Thr264Asn
ENST00000643344.1:c.*541C>A ENSP00000496606.1:n.*541C>A
ENST00000039007.4:c.791C>A ENSP00000039007.4:p.Thr264Asn
ENST00000465127.1:c.172-257172C>A ENSP00000417050.1:n.172-257172C>A
NM_000531.5:c.791C>A NP_000522.3:p.Thr264Asn
XM_017029556.1:c.791C>A XP_016885045.1:p.Thr264Asn
NM_000531.6:c.791C>A MANE Select NP_000522.3:p.Thr264Asn