Canonical Allele Identifier: CA224697
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97262
ClinVar RCV Id: RCV000083504
dbSNP Id: rs72558403
MyVariant Identifiers: chrX:g.38262923A>T (hg19) chrX:g.38403670A>T (hg38)
PubMed: PMID:16786505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403670A>T , CM000685.2:g.38403670A>T GRCh38
NC_000023.10:g.38262923A>T , CM000685.1:g.38262923A>T GRCh37
NC_000023.9:g.38147867A>T NCBI36
NG_008471.1:g.56188A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.593A>T MANE Select ENSP00000039007.4:p.Asn198Ile
ENST00000643344.1:c.*343A>T ENSP00000496606.1:n.*343A>T
ENST00000039007.4:c.593A>T ENSP00000039007.4:p.Asn198Ile
ENST00000465127.1:c.172-262451A>T ENSP00000417050.1:n.172-262451A>T
NM_000531.5:c.593A>T NP_000522.3:p.Asn198Ile
XM_017029556.1:c.593A>T XP_016885045.1:p.Asn198Ile
NM_000531.6:c.593A>T MANE Select NP_000522.3:p.Asn198Ile
Search 100 bp 5'
Search 100 bp 3'