Canonical Allele Identifier: CA412723613
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268253T>A (hg19) chrX:g.38409000T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409000T>A , CM000685.2:g.38409000T>A GRCh38
NC_000023.10:g.38268253T>A , CM000685.1:g.38268253T>A GRCh37
NC_000023.9:g.38153197T>A NCBI36
NG_008471.1:g.61518T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.842T>A MANE Select ENSP00000039007.4:p.Phe281Tyr
ENST00000643344.1:c.*592T>A ENSP00000496606.1:n.*592T>A
ENST00000039007.4:c.842T>A ENSP00000039007.4:p.Phe281Tyr
ENST00000465127.1:c.172-257121T>A ENSP00000417050.1:n.172-257121T>A
NM_000531.5:c.842T>A NP_000522.3:p.Phe281Tyr
XM_017029556.1:c.842T>A XP_016885045.1:p.Phe281Tyr
NM_000531.6:c.842T>A MANE Select NP_000522.3:p.Phe281Tyr
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