Canonical Allele Identifier: CA1337613345

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350158G= , CM000664.2:g.237350158G=	GRCh38
NC_000002.11:g.238258801G= , CM000664.1:g.238258801G=	GRCh37
NC_000002.10:g.237923540G=	NCBI36
NG_008676.1:g.69050C= , LRG_473:g.69050C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6250C=	ENSP00000315873.4:p.Arg2084=
ENST00000295550.9:c.6868C= MANE Select	ENSP00000295550.4:p.Arg2290=
ENST00000295550.8:c.6868C=	ENSP00000295550.4:p.Arg2290=
ENST00000347401.7:c.5047C=	ENSP00000315609.4:p.Arg1683=
ENST00000353578.8:c.6250C=	ENSP00000315873.4:p.Arg2084=
ENST00000409809.5:c.6250C=	ENSP00000386844.1:p.Arg2084=
ENST00000472056.5:c.5047C=	ENSP00000418285.1:p.Arg1683=
ENST00000491769.1:n.1122C=
NM_004369.3:c.6868C= , LRG_473t1:c.6868C=	NP_004360.2:p.Arg2290=
NM_057166.4:c.5047C=	NP_476507.3:p.Arg1683=
NM_057167.3:c.6250C=	NP_476508.2:p.Arg2084=
XM_005246065.1:c.6268C=	XP_005246122.1:p.Arg2090=
XM_005246066.1:c.5647C=	XP_005246123.1:p.Arg1883=
XM_006712253.1:c.6367C=	XP_006712316.1:p.Arg2123=
XM_011510574.1:c.6865C=	XP_011508876.1:p.Arg2289=
XM_011510575.1:c.4462C=	XP_011508877.1:p.Arg1488=
XM_017003304.1:c.4462C=	XP_016858793.1:p.Arg1488=
XM_024452684.1:c.5647C=	XP_024308452.1:p.Arg1883=
NM_004369.4:c.6868C= MANE Select	NP_004360.2:p.Arg2290=
NM_057166.5:c.5047C=	NP_476507.3:p.Arg1683=
NM_057167.4:c.6250C=	NP_476508.2:p.Arg2084=