Canonical Allele Identifier: CA916083887

Gene: OTC

Linked Data

• ClinVar Variation Id: 870328
• ClinVar RCV Id: RCV001089872
• dbSNP Id: rs2068501144

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403645dup , CM000685.2:g.38403645dup	GRCh38
NC_000023.10:g.38262898dup , CM000685.1:g.38262898dup	GRCh37
NC_000023.9:g.38147842dup	NCBI36
NG_008471.1:g.56163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.568dup MANE Select	ENSP00000039007.4:p.Thr190AsnfsTer?
ENST00000643344.1:c.*318dup	ENSP00000496606.1:n.*318dup
ENST00000039007.4:c.568dup	ENSP00000039007.4:p.Thr190AsnfsTer?
ENST00000465127.1:c.172-262476dup	ENSP00000417050.1:n.172-262476dup
ENST00000488812.1:n.605dup
NM_000531.5:c.568dup	NP_000522.3:p.Thr190AsnfsTer?
XM_017029556.1:c.568dup	XP_016885045.1:p.Thr190AsnfsTer?
NM_000531.6:c.568dup MANE Select	NP_000522.3:p.Thr190AsnfsTer?