Canonical Allele Identifier: CA2188173

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237354921C>T , CM000664.2:g.237354921C>T	GRCh38
NC_000002.11:g.238263564C>T , CM000664.1:g.238263564C>T	GRCh37
NC_000002.10:g.237928303C>T	NCBI36
NG_008676.1:g.64287G>A , LRG_473:g.64287G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6605G>A MANE Select	NP_004360.2:p.Arg2202Gln
ENST00000295550.9:c.6605G>A MANE Select	ENSP00000295550.4:p.Arg2202Gln
NM_004369.3:c.6605G>A , LRG_473t1:c.6605G>A	NP_004360.2:p.Arg2202Gln
NM_057166.4:c.4784G>A	NP_476507.3:p.Arg1595Gln
NM_057166.5:c.4784G>A	NP_476507.3:p.Arg1595Gln
NM_057167.3:c.5987G>A	NP_476508.2:p.Arg1996Gln
NM_057167.4:c.5987G>A	NP_476508.2:p.Arg1996Gln
ENST00000295550.8:c.6605G>A	ENSP00000295550.4:p.Arg2202Gln
ENST00000347401.7:c.4784G>A	ENSP00000315609.4:p.Arg1595Gln
ENST00000353578.8:c.5987G>A	ENSP00000315873.4:p.Arg1996Gln
ENST00000353578.9:c.5987G>A	ENSP00000315873.4:p.Arg1996Gln
ENST00000409809.5:c.5987G>A	ENSP00000386844.1:p.Arg1996Gln
ENST00000472056.5:c.4784G>A	ENSP00000418285.1:p.Arg1595Gln
ENST00000491769.1:n.859G>A
XM_005246065.1:c.6005G>A	XP_005246122.1:p.Arg2002Gln
XM_005246066.1:c.5384G>A	XP_005246123.1:p.Arg1795Gln
XM_006712253.1:c.6104G>A	XP_006712316.1:p.Arg2035Gln
XM_011510574.1:c.6602G>A	XP_011508876.1:p.Arg2201Gln
XM_011510575.1:c.4199G>A	XP_011508877.1:p.Arg1400Gln
XM_017003304.1:c.4199G>A	XP_016858793.1:p.Arg1400Gln
XM_024452684.1:c.5384G>A	XP_024308452.1:p.Arg1795Gln