Canonical Allele Identifier: CA412715929

Gene: OTC

Linked Data

• MyVariant Identifiers: chrX:g.38226584C>A (hg19) ; chrX:g.38367331C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367331C>A , CM000685.2:g.38367331C>A	GRCh38
NC_000023.10:g.38226584C>A , CM000685.1:g.38226584C>A	GRCh37
NC_000023.9:g.38111528C>A	NCBI36
NG_008471.1:g.19849C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.118C>A MANE Select	ENSP00000039007.4:p.Arg40Ser
ENST00000643344.1:c.118C>A	ENSP00000496606.1:p.Arg40Ser
ENST00000039007.4:c.118C>A	ENSP00000039007.4:p.Arg40Ser
ENST00000465127.1:c.172-298790C>A	ENSP00000417050.1:n.172-298790C>A
ENST00000488812.1:n.210C>A
NM_000531.5:c.118C>A	NP_000522.3:p.Arg40Ser
XM_017029556.1:c.118C>A	XP_016885045.1:p.Arg40Ser
NM_000531.6:c.118C>A MANE Select	NP_000522.3:p.Arg40Ser