Canonical Allele Identifier: CA224705
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97267
ClinVar RCV Id: RCV000083509 RCV001265563
dbSNP Id: rs72558408
MyVariant Identifiers: chrX:g.38262934C>T (hg19) chrX:g.38403681C>T (hg38)
PubMed: PMID:9266388
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.604C>T MANE Select ENSP00000039007.4:p.His202Tyr
ENST00000643344.1:c.*354C>T ENSP00000496606.1:n.*354C>T
ENST00000039007.4:c.604C>T ENSP00000039007.4:p.His202Tyr
ENST00000465127.1:c.172-262440C>T ENSP00000417050.1:n.172-262440C>T
NM_000531.5:c.604C>T NP_000522.3:p.His202Tyr
XM_017029556.1:c.604C>T XP_016885045.1:p.His202Tyr
NM_000531.6:c.604C>T MANE Select NP_000522.3:p.His202Tyr
Search 100 bp 5'
Search 100 bp 3'