Canonical Allele Identifier: CA658799696

Gene: OTC

Linked Data

• ClinVar Variation Id: 529421
• ClinVar RCV Id: RCV000634845
• dbSNP Id: rs1555972540
• MyVariant Identifiers: chrX:g.38229132dup (hg19) ; chrX:g.38369879dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369879dup , CM000685.2:g.38369879dup	GRCh38
NC_000023.10:g.38229132dup , CM000685.1:g.38229132dup	GRCh37
NC_000023.9:g.38114076dup	NCBI36
NG_008471.1:g.22397dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.298+2dup MANE Select	ENSP00000039007.4:n.298+2dup
ENST00000643344.1:c.298+2dup	ENSP00000496606.1:n.298+2dup
ENST00000039007.4:c.298+2dup	ENSP00000039007.4:n.298+2dup
ENST00000465127.1:c.172-296242dup	ENSP00000417050.1:n.172-296242dup
ENST00000488812.1:n.353+39dup
NM_000531.5:c.298+2dup	NP_000522.3:n.298+2dup
XM_017029556.1:c.298+2dup	XP_016885045.1:n.298+2dup
NM_000531.6:c.298+2dup MANE Select	NP_000522.3:n.298+2dup