Canonical Allele Identifier: CA412725805

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38411898C>G , CM000685.2:g.38411898C>G	GRCh38
NC_000023.10:g.38271151C>G , CM000685.1:g.38271151C>G	GRCh37
NC_000023.9:g.38156095C>G	NCBI36
NG_008471.1:g.64416C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.904C>G MANE Select	NP_000522.3:p.His302Asp
ENST00000039007.5:c.904C>G MANE Select	ENSP00000039007.4:p.His302Asp
NM_000531.5:c.904C>G	NP_000522.3:p.His302Asp
ENST00000039007.4:c.904C>G	ENSP00000039007.4:p.His302Asp
ENST00000465127.1:c.172-254223C>G	ENSP00000417050.1:n.172-254223C>G
ENST00000643344.1:c.*654C>G	ENSP00000496606.1:n.*654C>G