Canonical Allele Identifier: CA224453
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97106
ClinVar RCV Id: RCV000083331
dbSNP Id: rs72554306
MyVariant Identifiers: chrX:g.38226581G>T (hg19) chrX:g.38367328G>T (hg38)
PubMed: PMID:9452049
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367328G>T , CM000685.2:g.38367328G>T GRCh38
NC_000023.10:g.38226581G>T , CM000685.1:g.38226581G>T GRCh37
NC_000023.9:g.38111525G>T NCBI36
NG_008471.1:g.19846G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.115G>T MANE Select ENSP00000039007.4:p.Gly39Cys
ENST00000643344.1:c.115G>T ENSP00000496606.1:p.Gly39Cys
ENST00000039007.4:c.115G>T ENSP00000039007.4:p.Gly39Cys
ENST00000465127.1:c.172-298793G>T ENSP00000417050.1:n.172-298793G>T
ENST00000488812.1:n.207G>T
NM_000531.5:c.115G>T NP_000522.3:p.Gly39Cys
XM_017029556.1:c.115G>T XP_016885045.1:p.Gly39Cys
NM_000531.6:c.115G>T MANE Select NP_000522.3:p.Gly39Cys
Search 100 bp 5'
Search 100 bp 3'