Canonical Allele Identifier: CA221092
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 93222
ClinVar RCV Id: RCV000079086
dbSNP Id: rs72556297
COSMIC: COSM1636530
MyVariant Identifiers: chrX:g.38262902T>G (hg19) chrX:g.38403649T>G (hg38)
PubMed: PMID:16786505
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38403649T>G , CM000685.2:g.38403649T>G GRCh38
NC_000023.10:g.38262902T>G , CM000685.1:g.38262902T>G GRCh37
NC_000023.9:g.38147846T>G NCBI36
NG_008471.1:g.56167T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.572T>G MANE Select ENSP00000039007.4:p.Leu191Arg
ENST00000643344.1:c.*322T>G ENSP00000496606.1:n.*322T>G
ENST00000039007.4:c.572T>G ENSP00000039007.4:p.Leu191Arg
ENST00000465127.1:c.172-262472T>G ENSP00000417050.1:n.172-262472T>G
ENST00000488812.1:n.609T>G
NM_000531.5:c.572T>G NP_000522.3:p.Leu191Arg
XM_017029556.1:c.572T>G XP_016885045.1:p.Leu191Arg
NM_000531.6:c.572T>G MANE Select NP_000522.3:p.Leu191Arg
Search 100 bp 5'
Search 100 bp 3'