Canonical Allele Identifier: CA412726729
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271227C>A (hg19) chrX:g.38411974C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411974C>A , CM000685.2:g.38411974C>A GRCh38
NC_000023.10:g.38271227C>A , CM000685.1:g.38271227C>A GRCh37
NC_000023.9:g.38156171C>A NCBI36
NG_008471.1:g.64492C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.980C>A MANE Select ENSP00000039007.4:p.Ala327Glu
ENST00000643344.1:c.*730C>A ENSP00000496606.1:n.*730C>A
ENST00000039007.4:c.980C>A ENSP00000039007.4:p.Ala327Glu
ENST00000465127.1:c.172-254147C>A ENSP00000417050.1:n.172-254147C>A
NM_000531.5:c.980C>A NP_000522.3:p.Ala327Glu
NM_000531.6:c.980C>A MANE Select NP_000522.3:p.Ala327Glu
Search 100 bp 5'
Search 100 bp 3'