Canonical Allele Identifier: CA400883398
Gene: COG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.73196640G>C , CM000679.2:g.73196640G>C GRCh38
NC_000017.10:g.71192779G>C , CM000679.1:g.71192779G>C GRCh37
NC_000017.9:g.68704374G>C NCBI36
NG_008971.1:g.8607G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299886.9:c.449G>C MANE Select ENSP00000299886.4:p.Cys150Ser
ENST00000299886.8:c.449G>C ENSP00000299886.4:p.Cys150Ser
ENST00000438720.7:c.447G>C
ENST00000582587.2:c.446G>C
ENST00000618996.4:c.449G>C ENSP00000479450.1:p.Cys150Ser
NM_018714.2:c.449G>C NP_061184.1:p.Cys150Ser
NM_018714.3:c.449G>C MANE Select NP_061184.1:p.Cys150Ser