Canonical Allele Identifier: CA412716412

Gene: OTC

Linked Data

• ClinVar Variation Id: 2503299
• ClinVar RCV Id: RCV003230133
• MyVariant Identifiers: chrX:g.38226663G>A (hg19) ; chrX:g.38367410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367410G>A , CM000685.2:g.38367410G>A	GRCh38
NC_000023.10:g.38226663G>A , CM000685.1:g.38226663G>A	GRCh37
NC_000023.9:g.38111607G>A	NCBI36
NG_008471.1:g.19928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.197G>A MANE Select	ENSP00000039007.4:p.Arg66Lys
ENST00000643344.1:c.197G>A	ENSP00000496606.1:p.Arg66Lys
ENST00000039007.4:c.197G>A	ENSP00000039007.4:p.Arg66Lys
ENST00000465127.1:c.172-298711G>A	ENSP00000417050.1:n.172-298711G>A
ENST00000488812.1:n.289G>A
NM_000531.5:c.197G>A	NP_000522.3:p.Arg66Lys
XM_017029556.1:c.197G>A	XP_016885045.1:p.Arg66Lys
NM_000531.6:c.197G>A MANE Select	NP_000522.3:p.Arg66Lys