Canonical Allele Identifier: CA2274431942
Gene: COG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196543G= , CM000679.2:g.73196543G= GRCh38
NC_000017.10:g.71192682G= , CM000679.1:g.71192682G= GRCh37
NC_000017.9:g.68704277G= NCBI36
NG_008971.1:g.8510G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.352G= MANE Select ENSP00000299886.4:p.Ala118=
ENST00000299886.8:c.352G= ENSP00000299886.4:p.Ala118=
ENST00000438720.7:c.350G=
ENST00000582587.2:c.349G=
ENST00000618996.4:c.352G= ENSP00000479450.1:p.Ala118=
NM_018714.2:c.352G= NP_061184.1:p.Ala118=
NM_018714.3:c.352G= MANE Select NP_061184.1:p.Ala118=