Canonical Allele Identifier: CA224725
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97280
ClinVar RCV Id: RCV000083524
dbSNP Id: rs72558424
MyVariant Identifiers: chrX:g.38262980C>A (hg19) chrX:g.38403727C>A (hg38)
PubMed: PMID:16786505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403727C>A , CM000685.2:g.38403727C>A GRCh38
NC_000023.10:g.38262980C>A , CM000685.1:g.38262980C>A GRCh37
NC_000023.9:g.38147924C>A NCBI36
NG_008471.1:g.56245C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.650C>A MANE Select ENSP00000039007.4:p.Ala217Glu
ENST00000643344.1:c.*400C>A ENSP00000496606.1:n.*400C>A
ENST00000039007.4:c.650C>A ENSP00000039007.4:p.Ala217Glu
ENST00000465127.1:c.172-262394C>A ENSP00000417050.1:n.172-262394C>A
NM_000531.5:c.650C>A NP_000522.3:p.Ala217Glu
XM_017029556.1:c.650C>A XP_016885045.1:p.Ala217Glu
NM_000531.6:c.650C>A MANE Select NP_000522.3:p.Ala217Glu
Search 100 bp 5'
Search 100 bp 3'