Canonical Allele Identifier: CA224610
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97203
ClinVar RCV Id: RCV000083440
dbSNP Id: rs67016166
MyVariant Identifiers: chrX:g.38260584T>G (hg19) chrX:g.38401331T>G (hg38)
PubMed: PMID:10946359
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401331T>G , CM000685.2:g.38401331T>G GRCh38
NC_000023.10:g.38260584T>G , CM000685.1:g.38260584T>G GRCh37
NC_000023.9:g.38145528T>G NCBI36
NG_008471.1:g.53849T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.443T>G MANE Select ENSP00000039007.4:p.Leu148Trp
ENST00000643344.1:c.*193T>G ENSP00000496606.1:n.*193T>G
ENST00000039007.4:c.443T>G ENSP00000039007.4:p.Leu148Trp
ENST00000465127.1:c.172-264790T>G ENSP00000417050.1:n.172-264790T>G
ENST00000488812.1:n.480T>G
NM_000531.5:c.443T>G NP_000522.3:p.Leu148Trp
XM_017029556.1:c.443T>G XP_016885045.1:p.Leu148Trp
NM_000531.6:c.443T>G MANE Select NP_000522.3:p.Leu148Trp
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