Canonical Allele Identifier: CA224594
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97195
ClinVar RCV Id: RCV003509490
dbSNP Id: rs72556259
MyVariant Identifiers: chrX:g.38260557T>C (hg19) chrX:g.38401304T>C (hg38)
PubMed: PMID:9266388
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401304T>C , CM000685.2:g.38401304T>C GRCh38
NC_000023.10:g.38260557T>C , CM000685.1:g.38260557T>C GRCh37
NC_000023.9:g.38145501T>C NCBI36
NG_008471.1:g.53822T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.416T>C MANE Select ENSP00000039007.4:p.Leu139Ser
ENST00000643344.1:c.*166T>C ENSP00000496606.1:n.*166T>C
ENST00000039007.4:c.416T>C ENSP00000039007.4:p.Leu139Ser
ENST00000465127.1:c.172-264817T>C ENSP00000417050.1:n.172-264817T>C
ENST00000488812.1:n.453T>C
NM_000531.5:c.416T>C NP_000522.3:p.Leu139Ser
XM_017029556.1:c.416T>C XP_016885045.1:p.Leu139Ser
NM_000531.6:c.416T>C MANE Select NP_000522.3:p.Leu139Ser
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Search 100 bp 3'