Canonical Allele Identifier: CA412723074
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260557T>G (hg19) chrX:g.38401304T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401304T>G , CM000685.2:g.38401304T>G GRCh38
NC_000023.10:g.38260557T>G , CM000685.1:g.38260557T>G GRCh37
NC_000023.9:g.38145501T>G NCBI36
NG_008471.1:g.53822T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.416T>G MANE Select ENSP00000039007.4:p.Leu139Trp
ENST00000643344.1:c.*166T>G ENSP00000496606.1:n.*166T>G
ENST00000039007.4:c.416T>G ENSP00000039007.4:p.Leu139Trp
ENST00000465127.1:c.172-264817T>G ENSP00000417050.1:n.172-264817T>G
ENST00000488812.1:n.453T>G
NM_000531.5:c.416T>G NP_000522.3:p.Leu139Trp
XM_017029556.1:c.416T>G XP_016885045.1:p.Leu139Trp
NM_000531.6:c.416T>G MANE Select NP_000522.3:p.Leu139Trp
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