Canonical Allele Identifier: CA224450

Gene: OTC

Linked Data

• ClinVar Variation Id: 97104
• ClinVar RCV Id: RCV000083329 ; RCV001095686
• dbSNP Id: rs72558495
• gnomAD v2: X-38280331-T-G
• gnomAD v3: X-38421078-T-G
• gnomAD v4: X-38421078-T-G
• MyVariant Identifiers: chrX:g.38280331T>G (hg19) ; chrX:g.38421078T>G (hg38)
• PubMed: PMID:8857803

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38421078T>G , CM000685.2:g.38421078T>G	GRCh38
NC_000023.10:g.38280331T>G , CM000685.1:g.38280331T>G	GRCh37
NC_000023.9:g.38165275T>G	NCBI36
NG_008471.1:g.73596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.1061T>G MANE Select	ENSP00000039007.4:p.Phe354Cys
ENST00000039007.4:c.1061T>G	ENSP00000039007.4:p.Phe354Cys
ENST00000465127.1:c.172-245043T>G	ENSP00000417050.1:n.172-245043T>G
NM_000531.5:c.1061T>G	NP_000522.3:p.Phe354Cys
NM_000531.6:c.1061T>G MANE Select	NP_000522.3:p.Phe354Cys