Canonical Allele Identifier: CA10634364

Gene: COG6

Linked Data

• ClinVar Variation Id: 312129
• ClinVar RCV Id: RCV000272989 ; RCV003352829
• dbSNP Id: rs886050224
• gnomAD v4: 13-39655763-G-A
• COSMIC: COSM4047561 ; COSM4047562
• MyVariant Identifiers: chr13:g.40229900G>A (hg19) ; chr13:g.39655763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39655763G>A , CM000675.2:g.39655763G>A	GRCh38
NC_000013.10:g.40229900G>A , CM000675.1:g.40229900G>A	GRCh37
NC_000013.9:g.39127900G>A	NCBI36
NG_028352.1:g.5137G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.37G>A MANE Select	ENSP00000397441.2:p.Ala13Thr
ENST00000356576.8:c.37G>A	ENSP00000348983.4:p.Ala13Thr
ENST00000416691.5:c.37G>A	ENSP00000403733.1:p.Ala13Thr
ENST00000422759.6:n.102G>A
ENST00000455146.7:c.37G>A	ENSP00000397441.2:p.Ala13Thr
ENST00000542266.5:c.37G>A	ENSP00000441297.1:p.Ala13Thr
ENST00000543790.5:c.37G>A	ENSP00000440438.1:p.Ala13Thr
ENST00000543804.5:c.37G>A	ENSP00000440473.1:p.Ala13Thr
ENST00000630730.1:c.37G>A	ENSP00000486051.1:p.Ala13Thr
NM_001145079.1:c.37G>A	NP_001138551.1:p.Ala13Thr
NM_020751.2:c.37G>A	NP_065802.1:p.Ala13Thr
NR_026745.1:n.137G>A
XM_011535168.1:c.37G>A	XP_011533470.1:p.Ala13Thr
NM_020751.3:c.37G>A MANE Select	NP_065802.1:p.Ala13Thr
NM_001145079.2:c.37G>A	NP_001138551.1:p.Ala13Thr