Canonical Allele Identifier: CA2274431990

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196639T= , CM000679.2:g.73196639T=	GRCh38
NC_000017.10:g.71192778T= , CM000679.1:g.71192778T=	GRCh37
NC_000017.9:g.68704373T=	NCBI36
NG_008971.1:g.8606T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.448T= MANE Select	ENSP00000299886.4:p.Cys150=
ENST00000299886.8:c.448T=	ENSP00000299886.4:p.Cys150=
ENST00000438720.7:c.446T=
ENST00000582587.2:c.445T=
ENST00000618996.4:c.448T=	ENSP00000479450.1:p.Cys150=
NM_018714.2:c.448T=	NP_061184.1:p.Cys150=
NM_018714.3:c.448T= MANE Select	NP_061184.1:p.Cys150=