Canonical Allele Identifier: CA224854
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97369
ClinVar RCV Id: RCV000083618
dbSNP Id: rs72554304
MyVariant Identifiers: chrX:g.38226560C>T (hg19) chrX:g.38367307C>T (hg38)
PubMed: PMID:9143919
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367307C>T , CM000685.2:g.38367307C>T GRCh38
NC_000023.10:g.38226560C>T , CM000685.1:g.38226560C>T GRCh37
NC_000023.9:g.38111504C>T NCBI36
NG_008471.1:g.19825C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.94C>T MANE Select ENSP00000039007.4:p.Gln32Ter
ENST00000643344.1:c.94C>T ENSP00000496606.1:p.Gln32Ter
ENST00000039007.4:c.94C>T ENSP00000039007.4:p.Gln32Ter
ENST00000465127.1:c.172-298814C>T ENSP00000417050.1:n.172-298814C>T
ENST00000488812.1:n.186C>T
NM_000531.5:c.94C>T NP_000522.3:p.Gln32Ter
XM_017029556.1:c.94C>T XP_016885045.1:p.Gln32Ter
NM_000531.6:c.94C>T MANE Select NP_000522.3:p.Gln32Ter
Search 100 bp 5'
Search 100 bp 3'