Canonical Allele Identifier: CA400882779
Gene: COG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196515G>C , CM000679.2:g.73196515G>C GRCh38
NC_000017.10:g.71192654G>C , CM000679.1:g.71192654G>C GRCh37
NC_000017.9:g.68704249G>C NCBI36
NG_008971.1:g.8482G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299886.9:c.324G>C MANE Select ENSP00000299886.4:p.Gln108His
ENST00000299886.8:c.324G>C ENSP00000299886.4:p.Gln108His
ENST00000438720.7:c.322G>C
ENST00000582587.2:c.321G>C
ENST00000618996.4:c.324G>C ENSP00000479450.1:p.Gln108His
NM_018714.2:c.324G>C NP_061184.1:p.Gln108His
NM_018714.3:c.324G>C MANE Select NP_061184.1:p.Gln108His