Canonical Allele Identifier: CA255648

Gene: OTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38408987C>T , CM000685.2:g.38408987C>T	GRCh38
NC_000023.10:g.38268240C>T , CM000685.1:g.38268240C>T	GRCh37
NC_000023.9:g.38153184C>T	NCBI36
NG_008471.1:g.61505C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000531.6:c.829C>T MANE Select	NP_000522.3:p.Arg277Trp
ENST00000039007.5:c.829C>T MANE Select	ENSP00000039007.4:p.Arg277Trp
NM_000531.5:c.829C>T	NP_000522.3:p.Arg277Trp
ENST00000039007.4:c.829C>T	ENSP00000039007.4:p.Arg277Trp
ENST00000465127.1:c.172-257134C>T	ENSP00000417050.1:n.172-257134C>T
ENST00000643344.1:c.*579C>T	ENSP00000496606.1:n.*579C>T
XM_017029556.1:c.829C>T	XP_016885045.1:p.Arg277Trp