Canonical Allele Identifier: CA224823

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411897A>T , CM000685.2:g.38411897A>T	GRCh38
NC_000023.10:g.38271150A>T , CM000685.1:g.38271150A>T	GRCh37
NC_000023.9:g.38156094A>T	NCBI36
NG_008471.1:g.64415A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.903A>T MANE Select	NP_000522.3:p.Leu301Phe
ENST00000039007.5:c.903A>T MANE Select	ENSP00000039007.4:p.Leu301Phe
NM_000531.5:c.903A>T	NP_000522.3:p.Leu301Phe
ENST00000039007.4:c.903A>T	ENSP00000039007.4:p.Leu301Phe
ENST00000465127.1:c.172-254224A>T	ENSP00000417050.1:n.172-254224A>T
ENST00000643344.1:c.*653A>T	ENSP00000496606.1:n.*653A>T