Canonical Allele Identifier: CA2274432030

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196737C= , CM000679.2:g.73196737C=	GRCh38
NC_000017.10:g.71192876C= , CM000679.1:g.71192876C=	GRCh37
NC_000017.9:g.68704471C=	NCBI36
NG_008971.1:g.8704C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.546C= MANE Select	ENSP00000299886.4:p.Ala182=
ENST00000299886.8:c.546C=	ENSP00000299886.4:p.Ala182=
ENST00000438720.7:c.544C=
ENST00000582587.2:c.543C=
ENST00000618996.4:c.546C=	ENSP00000479450.1:p.Ala182=
NM_018714.2:c.546C=	NP_061184.1:p.Ala182=
NM_018714.3:c.546C= MANE Select	NP_061184.1:p.Ala182=