Canonical Allele Identifier: CA656868506

Gene: COG1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.73196459A>T , CM000679.2:g.73196459A>T	GRCh38
NC_000017.10:g.71192598A>T , CM000679.1:g.71192598A>T	GRCh37
NC_000017.9:g.68704193A>T	NCBI36
NG_008971.1:g.8426A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299886.9:c.316-48A>T MANE Select	ENSP00000299886.4:n.316-48A>T
ENST00000299886.8:c.316-48A>T	ENSP00000299886.4:n.316-48A>T
ENST00000438720.7:c.314-48A>T
ENST00000582587.2:c.293-28A>T
ENST00000618996.4:c.316-48A>T	ENSP00000479450.1:n.316-48A>T
NM_018714.2:c.316-48A>T	NP_061184.1:n.316-48A>T
NM_018714.3:c.316-48A>T MANE Select	NP_061184.1:n.316-48A>T