Canonical Allele Identifier: CA658799697

Gene: OTC

Linked Data

• ClinVar Variation Id: 487480
• ClinVar RCV Id: RCV000627037
• dbSNP Id: rs1555970997
• MyVariant Identifiers: chrX:g.38211793T>G (hg19) ; chrX:g.38352540T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38352540T>G , CM000685.2:g.38352540T>G	GRCh38
NC_000023.10:g.38211793T>G , CM000685.1:g.38211793T>G	GRCh37
NC_000023.9:g.38096737T>G	NCBI36
NG_008471.1:g.5058T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465127.1:c.172-313581T>G	ENSP00000417050.1:n.172-313581T>G
NM_000531.5:c.-157T>G	NP_000522.3:n.-157T>G
XM_017029556.1:c.-157T>G	XP_016885045.1:n.-157T>G