Canonical Allele Identifier: CA515646982
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38240629T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381376T>G , CM000685.2:g.38381376T>G GRCh38
NC_000023.10:g.38240629T>G , CM000685.1:g.38240629T>G GRCh37
NC_000023.9:g.38125573T>G NCBI36
NG_008471.1:g.33894T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.333T>G MANE Select ENSP00000039007.4:p.Leu111=
ENST00000643344.1:c.*83T>G ENSP00000496606.1:n.*83T>G
ENST00000039007.4:c.333T>G ENSP00000039007.4:p.Leu111=
ENST00000465127.1:c.172-284745T>G ENSP00000417050.1:n.172-284745T>G
ENST00000488812.1:n.370T>G
NM_000531.5:c.333T>G NP_000522.3:p.Leu111=
XM_017029556.1:c.333T>G XP_016885045.1:p.Leu111=
NM_000531.6:c.333T>G MANE Select NP_000522.3:p.Leu111=
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