Canonical Allele Identifier: CA412718544
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38240666C>G (hg19) chrX:g.38381413C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381413C>G , CM000685.2:g.38381413C>G GRCh38
NC_000023.10:g.38240666C>G , CM000685.1:g.38240666C>G GRCh37
NC_000023.9:g.38125610C>G NCBI36
NG_008471.1:g.33931C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.370C>G MANE Select ENSP00000039007.4:p.Leu124Val
ENST00000643344.1:c.*120C>G ENSP00000496606.1:n.*120C>G
ENST00000039007.4:c.370C>G ENSP00000039007.4:p.Leu124Val
ENST00000465127.1:c.172-284708C>G ENSP00000417050.1:n.172-284708C>G
ENST00000488812.1:n.407C>G
NM_000531.5:c.370C>G NP_000522.3:p.Leu124Val
XM_017029556.1:c.370C>G XP_016885045.1:p.Leu124Val
NM_000531.6:c.370C>G MANE Select NP_000522.3:p.Leu124Val
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