Canonical Allele Identifier: CA224454

Gene: OTC

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

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