Canonical Allele Identifier: CA412716338
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 1780328
ClinVar RCV Id: RCV002407843
COSMIC: COSM5960897
MyVariant Identifiers: chrX:g.38226645C>G (hg19) chrX:g.38367392C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367392C>G , CM000685.2:g.38367392C>G GRCh38
NC_000023.10:g.38226645C>G , CM000685.1:g.38226645C>G GRCh37
NC_000023.9:g.38111589C>G NCBI36
NG_008471.1:g.19910C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.179C>G MANE Select ENSP00000039007.4:p.Ser60Ter
ENST00000643344.1:c.179C>G ENSP00000496606.1:p.Ser60Ter
ENST00000039007.4:c.179C>G ENSP00000039007.4:p.Ser60Ter
ENST00000465127.1:c.172-298729C>G ENSP00000417050.1:n.172-298729C>G
ENST00000488812.1:n.271C>G
NM_000531.5:c.179C>G NP_000522.3:p.Ser60Ter
XM_017029556.1:c.179C>G XP_016885045.1:p.Ser60Ter
NM_000531.6:c.179C>G MANE Select NP_000522.3:p.Ser60Ter
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