Canonical Allele Identifier: CA224504

Gene: OTC

Linked Data

• ClinVar Variation Id: 97136
• ClinVar RCV Id: RCV000011752 ; RCV000083365
• dbSNP Id: rs72554327
• gnomAD v4: X-38369795-G-A
• MyVariant Identifiers: chrX:g.38229048G>A (hg19) ; chrX:g.38369795G>A (hg38)
• PubMed: PMID:1480464

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369795G>A , CM000685.2:g.38369795G>A	GRCh38
NC_000023.10:g.38229048G>A , CM000685.1:g.38229048G>A	GRCh37
NC_000023.9:g.38113992G>A	NCBI36
NG_008471.1:g.22313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.217-1G>A MANE Select	ENSP00000039007.4:n.217-1G>A
ENST00000643344.1:c.217-1G>A	ENSP00000496606.1:n.217-1G>A
ENST00000039007.4:c.217-1G>A	ENSP00000039007.4:n.217-1G>A
ENST00000465127.1:c.172-296326G>A	ENSP00000417050.1:n.172-296326G>A
ENST00000488812.1:n.309-1G>A
NM_000531.5:c.217-1G>A	NP_000522.3:n.217-1G>A
XM_017029556.1:c.217-1G>A	XP_016885045.1:n.217-1G>A
NM_000531.6:c.217-1G>A MANE Select	NP_000522.3:n.217-1G>A