Canonical Allele Identifier: CA67822558

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237324804T>C , CM000664.2:g.237324804T>C	GRCh38
NC_000002.11:g.238233447T>C , CM000664.1:g.238233447T>C	GRCh37
NC_000002.10:g.237898186T>C	NCBI36
NG_008676.1:g.94404A>G , LRG_473:g.94404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1885A>G
ENST00000353578.9:c.8886A>G	ENSP00000315873.4:p.Lys2962=
ENST00000682957.1:c.1631A>G
ENST00000683348.1:c.370A>G	ENSP00000508058.1:n.370A>G
ENST00000295550.9:c.9504A>G MANE Select	ENSP00000295550.4:p.Lys3168=
ENST00000295550.8:c.9504A>G	ENSP00000295550.4:p.Lys3168=
ENST00000347401.7:c.7680A>G	ENSP00000315609.4:p.Lys2560=
ENST00000353578.8:c.8886A>G	ENSP00000315873.4:p.Lys2962=
ENST00000409809.5:c.8886A>G	ENSP00000386844.1:p.Lys2962=
ENST00000472056.5:c.7683A>G	ENSP00000418285.1:p.Lys2561=
ENST00000473258.1:n.4632A>G
ENST00000491769.1:n.5946A>G
NM_004369.3:c.9504A>G , LRG_473t1:c.9504A>G	NP_004360.2:p.Lys3168=
NM_057166.4:c.7683A>G	NP_476507.3:p.Lys2561=
NM_057167.3:c.8886A>G	NP_476508.2:p.Lys2962=
XM_005246065.1:c.8904A>G	XP_005246122.1:p.Lys2968=
XM_005246066.1:c.8283A>G	XP_005246123.1:p.Lys2761=
XM_006712253.1:c.9003A>G	XP_006712316.1:p.Lys3001=
XM_011510574.1:c.9501A>G	XP_011508876.1:p.Lys3167=
XM_011510575.1:c.7098A>G	XP_011508877.1:p.Lys2366=
XM_017003304.1:c.7098A>G	XP_016858793.1:p.Lys2366=
XM_024452684.1:c.8283A>G	XP_024308452.1:p.Lys2761=
NM_004369.4:c.9504A>G MANE Select	NP_004360.2:p.Lys3168=
NM_057166.5:c.7683A>G	NP_476507.3:p.Lys2561=
NM_057167.4:c.8886A>G	NP_476508.2:p.Lys2962=