Canonical Allele Identifier: CA515650485

Gene: OTC

Linked Data

• ClinVar Variation Id: 1078746
• ClinVar RCV Id: RCV001393777
• dbSNP Id: rs756269281
• MyVariant Identifiers: chrX:g.38260630G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38401377G>A , CM000685.2:g.38401377G>A	GRCh38
NC_000023.10:g.38260630G>A , CM000685.1:g.38260630G>A	GRCh37
NC_000023.9:g.38145574G>A	NCBI36
NG_008471.1:g.53895G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.489G>A MANE Select	ENSP00000039007.4:p.Leu163=
ENST00000643344.1:c.*239G>A	ENSP00000496606.1:n.*239G>A
ENST00000039007.4:c.489G>A	ENSP00000039007.4:p.Leu163=
ENST00000465127.1:c.172-264744G>A	ENSP00000417050.1:n.172-264744G>A
ENST00000488812.1:n.526G>A
NM_000531.5:c.489G>A	NP_000522.3:p.Leu163=
XM_017029556.1:c.489G>A	XP_016885045.1:p.Leu163=
NM_000531.6:c.489G>A MANE Select	NP_000522.3:p.Leu163=