Canonical Allele Identifier: CA224503
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97135
ClinVar RCV Id: RCV000083364
dbSNP Id: rs66693137
MyVariant Identifiers: chrX:g.38226683G>T (hg19) chrX:g.38367430G>T (hg38)
PubMed: PMID:12175783
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367430G>T , CM000685.2:g.38367430G>T GRCh38
NC_000023.10:g.38226683G>T , CM000685.1:g.38226683G>T GRCh37
NC_000023.9:g.38111627G>T NCBI36
NG_008471.1:g.19948G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000039007.5:c.216+1G>T MANE Select ENSP00000039007.4:n.216+1G>T
ENST00000643344.1:c.216+1G>T ENSP00000496606.1:n.216+1G>T
ENST00000039007.4:c.216+1G>T ENSP00000039007.4:n.216+1G>T
ENST00000465127.1:c.172-298691G>T ENSP00000417050.1:n.172-298691G>T
ENST00000488812.1:n.308+1G>T
NM_000531.5:c.216+1G>T NP_000522.3:n.216+1G>T
XM_017029556.1:c.216+1G>T XP_016885045.1:n.216+1G>T
NM_000531.6:c.216+1G>T MANE Select NP_000522.3:n.216+1G>T
Search 100 bp 5'
Search 100 bp 3'