Canonical Allele Identifier: CA224454
Gene: OTC HGNC NCBI

Linked Data

ClinVar Variation Id: 11014
ClinVar RCV Id: RCV000011761 RCV000083333
dbSNP Id: rs72554308
gnomAD v4: X-38367332-G-A
MyVariant Identifiers: chrX:g.38226585G>A (hg19) chrX:g.38367332G>A (hg38)
PubMed: PMID:7951259 PMID:9048915 PMID:9175746 PMID:11102556 PMID:11260212 PMID:11768581 PMID:17334707 PMID:21070677 PMID:25026867
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38367332G>A , CM000685.2:g.38367332G>A GRCh38
NC_000023.10:g.38226585G>A , CM000685.1:g.38226585G>A GRCh37
NC_000023.9:g.38111529G>A NCBI36
NG_008471.1:g.19850G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000039007.5:c.119G>A MANE Select ENSP00000039007.4:p.Arg40His
ENST00000643344.1:c.119G>A ENSP00000496606.1:p.Arg40His
ENST00000039007.4:c.119G>A ENSP00000039007.4:p.Arg40His
ENST00000465127.1:c.172-298789G>A ENSP00000417050.1:n.172-298789G>A
ENST00000488812.1:n.211G>A
NM_000531.5:c.119G>A NP_000522.3:p.Arg40His
XM_017029556.1:c.119G>A XP_016885045.1:p.Arg40His
NM_000531.6:c.119G>A MANE Select NP_000522.3:p.Arg40His
Search 100 bp 5'
Search 100 bp 3'