Canonical Allele Identifier: CA515650484

Gene: OTC

Linked Data

• ClinVar Variation Id: 1535447
• ClinVar RCV Id: RCV002077778
• dbSNP Id: rs2147341395
• MyVariant Identifiers: chrX:g.38260628C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401375C>T , CM000685.2:g.38401375C>T	GRCh38
NC_000023.10:g.38260628C>T , CM000685.1:g.38260628C>T	GRCh37
NC_000023.9:g.38145572C>T	NCBI36
NG_008471.1:g.53893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.487C>T MANE Select	ENSP00000039007.4:p.Leu163=
ENST00000643344.1:c.*237C>T	ENSP00000496606.1:n.*237C>T
ENST00000039007.4:c.487C>T	ENSP00000039007.4:p.Leu163=
ENST00000465127.1:c.172-264746C>T	ENSP00000417050.1:n.172-264746C>T
ENST00000488812.1:n.524C>T
NM_000531.5:c.487C>T	NP_000522.3:p.Leu163=
XM_017029556.1:c.487C>T	XP_016885045.1:p.Leu163=
NM_000531.6:c.487C>T MANE Select	NP_000522.3:p.Leu163=