Canonical Allele Identifier: CA1337620966

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366928T= , CM000664.2:g.237366928T=	GRCh38
NC_000002.11:g.238275571T= , CM000664.1:g.238275571T=	GRCh37
NC_000002.10:g.237940310T=	NCBI36
NG_008676.1:g.52280A= , LRG_473:g.52280A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4641A=	ENSP00000315873.4:p.Gly1547=
ENST00000295550.9:c.5259A= MANE Select	ENSP00000295550.4:p.Gly1753=
ENST00000295550.8:c.5259A=	ENSP00000295550.4:p.Gly1753=
ENST00000347401.7:c.3438A=	ENSP00000315609.4:p.Gly1146=
ENST00000353578.8:c.4641A=	ENSP00000315873.4:p.Gly1547=
ENST00000409809.5:c.4641A=	ENSP00000386844.1:p.Gly1547=
ENST00000472056.5:c.3438A=	ENSP00000418285.1:p.Gly1146=
NM_004369.3:c.5259A= , LRG_473t1:c.5259A=	NP_004360.2:p.Gly1753=
NM_057166.4:c.3438A=	NP_476507.3:p.Gly1146=
NM_057167.3:c.4641A=	NP_476508.2:p.Gly1547=
XM_005246065.1:c.4659A=	XP_005246122.1:p.Gly1553=
XM_005246066.1:c.4038A=	XP_005246123.1:p.Gly1346=
XM_006712253.1:c.4758A=	XP_006712316.1:p.Gly1586=
XM_011510574.1:c.5256A=	XP_011508876.1:p.Gly1752=
XM_011510575.1:c.2853A=	XP_011508877.1:p.Gly951=
XM_017003304.1:c.2853A=	XP_016858793.1:p.Gly951=
XM_024452684.1:c.4038A=	XP_024308452.1:p.Gly1346=
NM_004369.4:c.5259A= MANE Select	NP_004360.2:p.Gly1753=
NM_057166.5:c.3438A=	NP_476507.3:p.Gly1146=
NM_057167.4:c.4641A=	NP_476508.2:p.Gly1547=