Canonical Allele Identifier: CA224591
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 97193
ClinVar RCV Id: RCV000083428
dbSNP Id: rs72556258
gnomAD v2: X-38260550-G-A
gnomAD v4: X-38401297-G-A
MyVariant Identifiers: chrX:g.38260550G>A (hg19) chrX:g.38401297G>A (hg38)
PubMed: PMID:16786505
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38401297G>A , CM000685.2:g.38401297G>A GRCh38
NC_000023.10:g.38260550G>A , CM000685.1:g.38260550G>A GRCh37
NC_000023.9:g.38145494G>A NCBI36
NG_008471.1:g.53815G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.409G>A MANE Select ENSP00000039007.4:p.Ala137Thr
ENST00000643344.1:c.*159G>A ENSP00000496606.1:n.*159G>A
ENST00000039007.4:c.409G>A ENSP00000039007.4:p.Ala137Thr
ENST00000465127.1:c.172-264824G>A ENSP00000417050.1:n.172-264824G>A
ENST00000488812.1:n.446G>A
NM_000531.5:c.409G>A NP_000522.3:p.Ala137Thr
XM_017029556.1:c.409G>A XP_016885045.1:p.Ala137Thr
NM_000531.6:c.409G>A MANE Select NP_000522.3:p.Ala137Thr
Search 100 bp 5'
Search 100 bp 3'