Canonical Allele Identifier: CA248351042

Gene: COG6

Linked Data

• ClinVar Variation Id: 1030728
• ClinVar RCV Id: RCV001332354 ; RCV002546553 ; RCV003145579
• dbSNP Id: rs866336771
• gnomAD v4: 13-39660811-A-T
• COSMIC: COSM4575924 ; COSM4575925
• MyVariant Identifiers: chr13:g.40234948A>T (hg19) ; chr13:g.39660811A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39660811A>T , CM000675.2:g.39660811A>T	GRCh38
NC_000013.10:g.40234948A>T , CM000675.1:g.40234948A>T	GRCh37
NC_000013.9:g.39132948A>T	NCBI36
NG_028352.1:g.10185A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.299A>T MANE Select	ENSP00000397441.2:p.Glu100Val
ENST00000356576.8:c.*136A>T	ENSP00000348983.4:n.*136A>T
ENST00000416691.5:c.299A>T	ENSP00000403733.1:p.Glu100Val
ENST00000422759.6:n.364A>T
ENST00000455146.7:c.299A>T	ENSP00000397441.2:p.Glu100Val
ENST00000536488.5:c.114A>T
ENST00000543804.5:c.*60A>T	ENSP00000440473.1:n.*60A>T
NM_001145079.1:c.299A>T	NP_001138551.1:p.Glu100Val
NM_020751.2:c.299A>T	NP_065802.1:p.Glu100Val
NR_026745.1:n.464A>T
XM_011535168.1:c.299A>T	XP_011533470.1:p.Glu100Val
XM_011535169.1:c.143A>T	XP_011533471.1:p.Glu48Val
XM_011535170.1:c.143A>T	XP_011533472.1:p.Glu48Val
NM_020751.3:c.299A>T MANE Select	NP_065802.1:p.Glu100Val
NM_001145079.2:c.299A>T	NP_001138551.1:p.Glu100Val