Canonical Allele Identifier: CA224773

Gene: OTC

Linked Data

• ClinVar Variation Id: 97313
• ClinVar RCV Id: RCV000083559 ; RCV001206949
• dbSNP Id: rs67077695
• gnomAD v4: X-38352774-G-A
• MyVariant Identifiers: chrX:g.38212027G>A (hg19) ; chrX:g.38352774G>A (hg38)
• PubMed: PMID:16786505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38352774G>A , CM000685.2:g.38352774G>A	GRCh38
NC_000023.10:g.38212027G>A , CM000685.1:g.38212027G>A	GRCh37
NC_000023.9:g.38096971G>A	NCBI36
NG_008471.1:g.5292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.77+1G>A MANE Select	ENSP00000039007.4:n.77+1G>A
ENST00000643344.1:c.77+1G>A	ENSP00000496606.1:n.77+1G>A
ENST00000039007.4:c.77+1G>A	ENSP00000039007.4:n.77+1G>A
ENST00000465127.1:c.172-313347G>A	ENSP00000417050.1:n.172-313347G>A
ENST00000488812.1:n.169+1G>A
NM_000531.5:c.77+1G>A	NP_000522.3:n.77+1G>A
XM_017029556.1:c.77+1G>A	XP_016885045.1:n.77+1G>A
NM_000531.6:c.77+1G>A MANE Select	NP_000522.3:n.77+1G>A