Canonical Allele Identifier: CA400884127
Gene: COG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196741A>G , CM000679.2:g.73196741A>G GRCh38
NC_000017.10:g.71192880A>G , CM000679.1:g.71192880A>G GRCh37
NC_000017.9:g.68704475A>G NCBI36
NG_008971.1:g.8708A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.550A>G MANE Select ENSP00000299886.4:p.Ser184Gly
ENST00000299886.8:c.550A>G ENSP00000299886.4:p.Ser184Gly
ENST00000438720.7:c.548A>G
ENST00000582587.2:c.547A>G
ENST00000618996.4:c.550A>G ENSP00000479450.1:p.Ser184Gly
NM_018714.2:c.550A>G NP_061184.1:p.Ser184Gly
NM_018714.3:c.550A>G MANE Select NP_061184.1:p.Ser184Gly