Canonical Allele Identifier: CA412716358
Gene: OTC HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.38226651A>T (hg19) chrX:g.38367398A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367398A>T , CM000685.2:g.38367398A>T GRCh38
NC_000023.10:g.38226651A>T , CM000685.1:g.38226651A>T GRCh37
NC_000023.9:g.38111595A>T NCBI36
NG_008471.1:g.19916A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.185A>T MANE Select ENSP00000039007.4:p.Asp62Val
ENST00000643344.1:c.185A>T ENSP00000496606.1:p.Asp62Val
ENST00000039007.4:c.185A>T ENSP00000039007.4:p.Asp62Val
ENST00000465127.1:c.172-298723A>T ENSP00000417050.1:n.172-298723A>T
ENST00000488812.1:n.277A>T
NM_000531.5:c.185A>T NP_000522.3:p.Asp62Val
XM_017029556.1:c.185A>T XP_016885045.1:p.Asp62Val
NM_000531.6:c.185A>T MANE Select NP_000522.3:p.Asp62Val
Search 100 bp 5'
Search 100 bp 3'