Canonical Allele Identifier: CA412725771
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271146T>A (hg19) chrX:g.38411893T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411893T>A , CM000685.2:g.38411893T>A GRCh38
NC_000023.10:g.38271146T>A , CM000685.1:g.38271146T>A GRCh37
NC_000023.9:g.38156090T>A NCBI36
NG_008471.1:g.64411T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.899T>A MANE Select ENSP00000039007.4:p.Phe300Tyr
ENST00000643344.1:c.*649T>A ENSP00000496606.1:n.*649T>A
ENST00000039007.4:c.899T>A ENSP00000039007.4:p.Phe300Tyr
ENST00000465127.1:c.172-254228T>A ENSP00000417050.1:n.172-254228T>A
NM_000531.5:c.899T>A NP_000522.3:p.Phe300Tyr
NM_000531.6:c.899T>A MANE Select NP_000522.3:p.Phe300Tyr
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