Canonical Allele Identifier: CA1337608590

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340551C= , CM000664.2:g.237340551C=	GRCh38
NC_000002.11:g.238249194C= , CM000664.1:g.238249194C=	GRCh37
NC_000002.10:g.237913933C=	NCBI36
NG_008676.1:g.78657G= , LRG_473:g.78657G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1010G=
ENST00000353578.9:c.7747G=	ENSP00000315873.4:p.Glu2583=
ENST00000682957.1:c.368G=
ENST00000684508.1:n.632G=
ENST00000295550.9:c.8365G= MANE Select	ENSP00000295550.4:p.Glu2789=
ENST00000295550.8:c.8365G=	ENSP00000295550.4:p.Glu2789=
ENST00000347401.7:c.6541G=	ENSP00000315609.4:p.Glu2181=
ENST00000353578.8:c.7747G=	ENSP00000315873.4:p.Glu2583=
ENST00000409809.5:c.7747G=	ENSP00000386844.1:p.Glu2583=
ENST00000468792.1:n.52G=
ENST00000472056.5:c.6544G=	ENSP00000418285.1:p.Glu2182=
ENST00000491769.1:n.4807G=
NM_004369.3:c.8365G= , LRG_473t1:c.8365G=	NP_004360.2:p.Glu2789=
NM_057166.4:c.6544G=	NP_476507.3:p.Glu2182=
NM_057167.3:c.7747G=	NP_476508.2:p.Glu2583=
XM_005246065.1:c.7765G=	XP_005246122.1:p.Glu2589=
XM_005246066.1:c.7144G=	XP_005246123.1:p.Glu2382=
XM_006712253.1:c.7864G=	XP_006712316.1:p.Glu2622=
XM_011510574.1:c.8362G=	XP_011508876.1:p.Glu2788=
XM_011510575.1:c.5959G=	XP_011508877.1:p.Glu1987=
XM_017003304.1:c.5959G=	XP_016858793.1:p.Glu1987=
XM_024452684.1:c.7144G=	XP_024308452.1:p.Glu2382=
NM_004369.4:c.8365G= MANE Select	NP_004360.2:p.Glu2789=
NM_057166.5:c.6544G=	NP_476507.3:p.Glu2182=
NM_057167.4:c.7747G=	NP_476508.2:p.Glu2583=