Canonical Allele Identifier: CA351185303

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237324814A>C , CM000664.2:g.237324814A>C	GRCh38
NC_000002.11:g.238233457A>C , CM000664.1:g.238233457A>C	GRCh37
NC_000002.10:g.237898196A>C	NCBI36
NG_008676.1:g.94394T>G , LRG_473:g.94394T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1875T>G
ENST00000353578.9:c.8876T>G	ENSP00000315873.4:p.Val2959Gly
ENST00000682957.1:c.1621T>G
ENST00000683348.1:c.360T>G	ENSP00000508058.1:n.360T>G
ENST00000295550.9:c.9494T>G MANE Select	ENSP00000295550.4:p.Val3165Gly
ENST00000295550.8:c.9494T>G	ENSP00000295550.4:p.Val3165Gly
ENST00000347401.7:c.7670T>G	ENSP00000315609.4:p.Val2557Gly
ENST00000353578.8:c.8876T>G	ENSP00000315873.4:p.Val2959Gly
ENST00000409809.5:c.8876T>G	ENSP00000386844.1:p.Val2959Gly
ENST00000472056.5:c.7673T>G	ENSP00000418285.1:p.Val2558Gly
ENST00000473258.1:n.4622T>G
ENST00000491769.1:n.5936T>G
NM_004369.3:c.9494T>G , LRG_473t1:c.9494T>G	NP_004360.2:p.Val3165Gly
NM_057166.4:c.7673T>G	NP_476507.3:p.Val2558Gly
NM_057167.3:c.8876T>G	NP_476508.2:p.Val2959Gly
XM_005246065.1:c.8894T>G	XP_005246122.1:p.Val2965Gly
XM_005246066.1:c.8273T>G	XP_005246123.1:p.Val2758Gly
XM_006712253.1:c.8993T>G	XP_006712316.1:p.Val2998Gly
XM_011510574.1:c.9491T>G	XP_011508876.1:p.Val3164Gly
XM_011510575.1:c.7088T>G	XP_011508877.1:p.Val2363Gly
XM_017003304.1:c.7088T>G	XP_016858793.1:p.Val2363Gly
XM_024452684.1:c.8273T>G	XP_024308452.1:p.Val2758Gly
NM_004369.4:c.9494T>G MANE Select	NP_004360.2:p.Val3165Gly
NM_057166.5:c.7673T>G	NP_476507.3:p.Val2558Gly
NM_057167.4:c.8876T>G	NP_476508.2:p.Val2959Gly