Canonical Allele Identifier: CA2274432035

Gene: COG1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196743C= , CM000679.2:g.73196743C=	GRCh38
NC_000017.10:g.71192882C= , CM000679.1:g.71192882C=	GRCh37
NC_000017.9:g.68704477C=	NCBI36
NG_008971.1:g.8710C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000299886.9:c.552C= MANE Select	ENSP00000299886.4:p.Ser184=
ENST00000299886.8:c.552C=	ENSP00000299886.4:p.Ser184=
ENST00000438720.7:c.550C=
ENST00000582587.2:c.549C=
ENST00000618996.4:c.552C=	ENSP00000479450.1:p.Ser184=
NM_018714.2:c.552C=	NP_061184.1:p.Ser184=
NM_018714.3:c.552C= MANE Select	NP_061184.1:p.Ser184=