Canonical Allele Identifier: CA412716931
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38229087T>G (hg19) chrX:g.38369834T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38369834T>G , CM000685.2:g.38369834T>G GRCh38
NC_000023.10:g.38229087T>G , CM000685.1:g.38229087T>G GRCh37
NC_000023.9:g.38114031T>G NCBI36
NG_008471.1:g.22352T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.255T>G MANE Select ENSP00000039007.4:p.Ile85Met
ENST00000643344.1:c.255T>G ENSP00000496606.1:p.Ile85Met
ENST00000039007.4:c.255T>G ENSP00000039007.4:p.Ile85Met
ENST00000465127.1:c.172-296287T>G ENSP00000417050.1:n.172-296287T>G
ENST00000488812.1:n.347T>G
NM_000531.5:c.255T>G NP_000522.3:p.Ile85Met
XM_017029556.1:c.255T>G XP_016885045.1:p.Ile85Met
NM_000531.6:c.255T>G MANE Select NP_000522.3:p.Ile85Met
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