Canonical Allele Identifier: CA224834

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411906G>T , CM000685.2:g.38411906G>T	GRCh38
NC_000023.10:g.38271159G>T , CM000685.1:g.38271159G>T	GRCh37
NC_000023.9:g.38156103G>T	NCBI36
NG_008471.1:g.64424G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.912G>T MANE Select	NP_000522.3:p.Leu304Phe
ENST00000039007.5:c.912G>T MANE Select	ENSP00000039007.4:p.Leu304Phe
NM_000531.5:c.912G>T	NP_000522.3:p.Leu304Phe
ENST00000039007.4:c.912G>T	ENSP00000039007.4:p.Leu304Phe
ENST00000465127.1:c.172-254215G>T	ENSP00000417050.1:n.172-254215G>T
ENST00000643344.1:c.*662G>T	ENSP00000496606.1:n.*662G>T