Canonical Allele Identifier: CA2820489231

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38370121C>T , CM000685.2:g.38370121C>T	GRCh38
NC_000023.10:g.38229374C>T , CM000685.1:g.38229374C>T	GRCh37
NC_000023.9:g.38114318C>T	NCBI36
NG_008471.1:g.22639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.298+244C>T MANE Select	ENSP00000039007.4:n.298+244C>T
ENST00000643344.1:c.298+244C>T	ENSP00000496606.1:n.298+244C>T
ENST00000039007.4:c.298+244C>T	ENSP00000039007.4:n.298+244C>T
ENST00000465127.1:c.172-296000C>T	ENSP00000417050.1:n.172-296000C>T
ENST00000488812.1:n.353+281C>T
NM_000531.5:c.298+244C>T	NP_000522.3:n.298+244C>T
XM_017029556.1:c.298+244C>T	XP_016885045.1:n.298+244C>T
NM_000531.6:c.298+244C>T MANE Select	NP_000522.3:n.298+244C>T