Canonical Allele Identifier: CA412723917
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38268274T>A (hg19) chrX:g.38409021T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38409021T>A , CM000685.2:g.38409021T>A GRCh38
NC_000023.10:g.38268274T>A , CM000685.1:g.38268274T>A GRCh37
NC_000023.9:g.38153218T>A NCBI36
NG_008471.1:g.61539T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.863T>A MANE Select ENSP00000039007.4:p.Met288Lys
ENST00000643344.1:c.*613T>A ENSP00000496606.1:n.*613T>A
ENST00000039007.4:c.863T>A ENSP00000039007.4:p.Met288Lys
ENST00000465127.1:c.172-257100T>A ENSP00000417050.1:n.172-257100T>A
NM_000531.5:c.863T>A NP_000522.3:p.Met288Lys
XM_017029556.1:c.863T>A XP_016885045.1:p.Met288Lys
NM_000531.6:c.863T>A MANE Select NP_000522.3:p.Met288Lys
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