Canonical Allele Identifier: CA412723069
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38260556T>A (hg19) chrX:g.38401303T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401303T>A , CM000685.2:g.38401303T>A GRCh38
NC_000023.10:g.38260556T>A , CM000685.1:g.38260556T>A GRCh37
NC_000023.9:g.38145500T>A NCBI36
NG_008471.1:g.53821T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.415T>A MANE Select ENSP00000039007.4:p.Leu139Met
ENST00000643344.1:c.*165T>A ENSP00000496606.1:n.*165T>A
ENST00000039007.4:c.415T>A ENSP00000039007.4:p.Leu139Met
ENST00000465127.1:c.172-264818T>A ENSP00000417050.1:n.172-264818T>A
ENST00000488812.1:n.452T>A
NM_000531.5:c.415T>A NP_000522.3:p.Leu139Met
XM_017029556.1:c.415T>A XP_016885045.1:p.Leu139Met
NM_000531.6:c.415T>A MANE Select NP_000522.3:p.Leu139Met
Search 100 bp 5'
Search 100 bp 3'