Canonical Allele Identifier: CA412723112

Gene: OTC

Linked Data

• ClinVar Variation Id: 2029961
• ClinVar RCV Id: RCV002894285
• MyVariant Identifiers: chrX:g.38268214T>A (hg19) ; chrX:g.38408961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408961T>A , CM000685.2:g.38408961T>A	GRCh38
NC_000023.10:g.38268214T>A , CM000685.1:g.38268214T>A	GRCh37
NC_000023.9:g.38153158T>A	NCBI36
NG_008471.1:g.61479T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.803T>A MANE Select	ENSP00000039007.4:p.Met268Lys
ENST00000643344.1:c.*553T>A	ENSP00000496606.1:n.*553T>A
ENST00000039007.4:c.803T>A	ENSP00000039007.4:p.Met268Lys
ENST00000465127.1:c.172-257160T>A	ENSP00000417050.1:n.172-257160T>A
NM_000531.5:c.803T>A	NP_000522.3:p.Met268Lys
XM_017029556.1:c.803T>A	XP_016885045.1:p.Met268Lys
NM_000531.6:c.803T>A MANE Select	NP_000522.3:p.Met268Lys