Canonical Allele Identifier: CA412728069

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38421056C>T , CM000685.2:g.38421056C>T	GRCh38
NC_000023.10:g.38280309C>T , CM000685.1:g.38280309C>T	GRCh37
NC_000023.9:g.38165253C>T	NCBI36
NG_008471.1:g.73574C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.1039C>T MANE Select	NP_000522.3:p.Pro347Ser
ENST00000039007.5:c.1039C>T MANE Select	ENSP00000039007.4:p.Pro347Ser
NM_000531.5:c.1039C>T	NP_000522.3:p.Pro347Ser
ENST00000039007.4:c.1039C>T	ENSP00000039007.4:p.Pro347Ser
ENST00000465127.1:c.172-245065C>T	ENSP00000417050.1:n.172-245065C>T
ENST00000643344.1:c.*789C>T	ENSP00000496606.1:n.*789C>T