Canonical Allele Identifier: CA2424888104

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38421028C= , CM000685.2:g.38421028C=	GRCh38
NC_000023.10:g.38280281C= , CM000685.1:g.38280281C=	GRCh37
NC_000023.9:g.38165225C=	NCBI36
NG_008471.1:g.73546C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000039007.5:c.1011C= MANE Select	ENSP00000039007.4:p.Val337=
ENST00000643344.1:c.*761C=	ENSP00000496606.1:n.*761C=
ENST00000039007.4:c.1011C=	ENSP00000039007.4:p.Val337=
ENST00000465127.1:c.172-245093C=	ENSP00000417050.1:n.172-245093C=
NM_000531.5:c.1011C=	NP_000522.3:p.Val337=
NM_000531.6:c.1011C= MANE Select	NP_000522.3:p.Val337=