Canonical Allele Identifier: CA2820488875

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38367094C>T , CM000685.2:g.38367094C>T	GRCh38
NC_000023.10:g.38226347C>T , CM000685.1:g.38226347C>T	GRCh37
NC_000023.9:g.38111291C>T	NCBI36
NG_008471.1:g.19612C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000039007.5:c.78-197C>T MANE Select	ENSP00000039007.4:n.78-197C>T
ENST00000643344.1:c.78-197C>T	ENSP00000496606.1:n.78-197C>T
ENST00000039007.4:c.78-197C>T	ENSP00000039007.4:n.78-197C>T
ENST00000465127.1:c.172-299027C>T	ENSP00000417050.1:n.172-299027C>T
ENST00000488812.1:n.170-197C>T
NM_000531.5:c.78-197C>T	NP_000522.3:n.78-197C>T
XM_017029556.1:c.78-197C>T	XP_016885045.1:n.78-197C>T
NM_000531.6:c.78-197C>T MANE Select	NP_000522.3:n.78-197C>T