Canonical Allele Identifier: CA412725329
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38262902T>A (hg19) chrX:g.38403649T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403649T>A , CM000685.2:g.38403649T>A GRCh38
NC_000023.10:g.38262902T>A , CM000685.1:g.38262902T>A GRCh37
NC_000023.9:g.38147846T>A NCBI36
NG_008471.1:g.56167T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.572T>A MANE Select ENSP00000039007.4:p.Leu191His
ENST00000643344.1:c.*322T>A ENSP00000496606.1:n.*322T>A
ENST00000039007.4:c.572T>A ENSP00000039007.4:p.Leu191His
ENST00000465127.1:c.172-262472T>A ENSP00000417050.1:n.172-262472T>A
ENST00000488812.1:n.609T>A
NM_000531.5:c.572T>A NP_000522.3:p.Leu191His
XM_017029556.1:c.572T>A XP_016885045.1:p.Leu191His
NM_000531.6:c.572T>A MANE Select NP_000522.3:p.Leu191His
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