Canonical Allele Identifier: CA412725223

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38262887T>A (hg19) ; chrX:g.38403634T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38403634T>A , CM000685.2:g.38403634T>A	GRCh38
NC_000023.10:g.38262887T>A , CM000685.1:g.38262887T>A	GRCh37
NC_000023.9:g.38147831T>A	NCBI36
NG_008471.1:g.56152T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.557T>A MANE Select	ENSP00000039007.4:p.Leu186Gln
ENST00000643344.1:c.*307T>A	ENSP00000496606.1:n.*307T>A
ENST00000039007.4:c.557T>A	ENSP00000039007.4:p.Leu186Gln
ENST00000465127.1:c.172-262487T>A	ENSP00000417050.1:n.172-262487T>A
ENST00000488812.1:n.594T>A
NM_000531.5:c.557T>A	NP_000522.3:p.Leu186Gln
XM_017029556.1:c.557T>A	XP_016885045.1:p.Leu186Gln
NM_000531.6:c.557T>A MANE Select	NP_000522.3:p.Leu186Gln