Canonical Allele Identifier: CA412725746
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38271143C>A (hg19) chrX:g.38411890C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38411890C>A , CM000685.2:g.38411890C>A GRCh38
NC_000023.10:g.38271143C>A , CM000685.1:g.38271143C>A GRCh37
NC_000023.9:g.38156087C>A NCBI36
NG_008471.1:g.64408C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.896C>A MANE Select ENSP00000039007.4:p.Thr299Lys
ENST00000643344.1:c.*646C>A ENSP00000496606.1:n.*646C>A
ENST00000039007.4:c.896C>A ENSP00000039007.4:p.Thr299Lys
ENST00000465127.1:c.172-254231C>A ENSP00000417050.1:n.172-254231C>A
NM_000531.5:c.896C>A NP_000522.3:p.Thr299Lys
NM_000531.6:c.896C>A MANE Select NP_000522.3:p.Thr299Lys
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