Canonical Allele Identifier: CA224536
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97155
ClinVar RCV Id: RCV000083387
dbSNP Id: rs72554344
MyVariant Identifiers: chrX:g.38229109A>G (hg19) chrX:g.38369856A>G (hg38)
PubMed: PMID:7627182
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369856A>G , CM000685.2:g.38369856A>G GRCh38
NC_000023.10:g.38229109A>G , CM000685.1:g.38229109A>G GRCh37
NC_000023.9:g.38114053A>G NCBI36
NG_008471.1:g.22374A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.277A>G MANE Select ENSP00000039007.4:p.Thr93Ala
ENST00000643344.1:c.277A>G ENSP00000496606.1:p.Thr93Ala
ENST00000039007.4:c.277A>G ENSP00000039007.4:p.Thr93Ala
ENST00000465127.1:c.172-296265A>G ENSP00000417050.1:n.172-296265A>G
ENST00000488812.1:n.353+16A>G
NM_000531.5:c.277A>G NP_000522.3:p.Thr93Ala
XM_017029556.1:c.277A>G XP_016885045.1:p.Thr93Ala
NM_000531.6:c.277A>G MANE Select NP_000522.3:p.Thr93Ala
Search 100 bp 5'
Search 100 bp 3'