Canonical Allele Identifier: CA224571
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97182
ClinVar RCV Id: RCV000083416
dbSNP Id: rs66656800
MyVariant Identifiers: chrX:g.38240682G>T (hg19) chrX:g.38381429G>T (hg38)
PubMed: PMID:8281162
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38381429G>T , CM000685.2:g.38381429G>T GRCh38
NC_000023.10:g.38240682G>T , CM000685.1:g.38240682G>T GRCh37
NC_000023.9:g.38125626G>T NCBI36
NG_008471.1:g.33947G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.386G>T MANE Select ENSP00000039007.4:p.Arg129Leu
ENST00000643344.1:c.*136G>T ENSP00000496606.1:n.*136G>T
ENST00000039007.4:c.386G>T ENSP00000039007.4:p.Arg129Leu
ENST00000465127.1:c.172-284692G>T ENSP00000417050.1:n.172-284692G>T
ENST00000488812.1:n.423G>T
NM_000531.5:c.386G>T NP_000522.3:p.Arg129Leu
XM_017029556.1:c.386G>T XP_016885045.1:p.Arg129Leu
NM_000531.6:c.386G>T MANE Select NP_000522.3:p.Arg129Leu
Search 100 bp 5'
Search 100 bp 3'