Canonical Allele Identifier: CA515645708

Gene: OTC

Linked Data

• dbSNP Id: rs2068314955
• COSMIC: COSM4480675
• MyVariant Identifiers: chrX:g.38229075C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38369822C>T , CM000685.2:g.38369822C>T	GRCh38
NC_000023.10:g.38229075C>T , CM000685.1:g.38229075C>T	GRCh37
NC_000023.9:g.38114019C>T	NCBI36
NG_008471.1:g.22340C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.243C>T MANE Select	ENSP00000039007.4:p.Ser81=
ENST00000643344.1:c.243C>T	ENSP00000496606.1:p.Ser81=
ENST00000039007.4:c.243C>T	ENSP00000039007.4:p.Ser81=
ENST00000465127.1:c.172-296299C>T	ENSP00000417050.1:n.172-296299C>T
ENST00000488812.1:n.335C>T
NM_000531.5:c.243C>T	NP_000522.3:p.Ser81=
XM_017029556.1:c.243C>T	XP_016885045.1:p.Ser81=
NM_000531.6:c.243C>T MANE Select	NP_000522.3:p.Ser81=