Canonical Allele Identifier: CA224799
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97333
ClinVar RCV Id: RCV000083580 RCV000702113
dbSNP Id: rs72558449
MyVariant Identifiers: chrX:g.38268214T>C (hg19) chrX:g.38408961T>C (hg38)
PubMed: PMID:8365726
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38408961T>C , CM000685.2:g.38408961T>C GRCh38
NC_000023.10:g.38268214T>C , CM000685.1:g.38268214T>C GRCh37
NC_000023.9:g.38153158T>C NCBI36
NG_008471.1:g.61479T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.803T>C MANE Select ENSP00000039007.4:p.Met268Thr
ENST00000643344.1:c.*553T>C ENSP00000496606.1:n.*553T>C
ENST00000039007.4:c.803T>C ENSP00000039007.4:p.Met268Thr
ENST00000465127.1:c.172-257160T>C ENSP00000417050.1:n.172-257160T>C
NM_000531.5:c.803T>C NP_000522.3:p.Met268Thr
XM_017029556.1:c.803T>C XP_016885045.1:p.Met268Thr
NM_000531.6:c.803T>C MANE Select NP_000522.3:p.Met268Thr
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