Canonical Allele Identifier: CA1337607076

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336203T= , CM000664.2:g.237336203T=	GRCh38
NC_000002.11:g.238244846T= , CM000664.1:g.238244846T=	GRCh37
NC_000002.10:g.237909585T=	NCBI36
NG_008676.1:g.83005A= , LRG_473:g.83005A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1542A=
ENST00000353578.9:c.8279A=	ENSP00000315873.4:p.Lys2760=
ENST00000682957.1:c.1024A=
ENST00000684508.1:n.1164A=
ENST00000295550.9:c.8897A= MANE Select	ENSP00000295550.4:p.Lys2966=
ENST00000295550.8:c.8897A=	ENSP00000295550.4:p.Lys2966=
ENST00000347401.7:c.7073A=	ENSP00000315609.4:p.Lys2358=
ENST00000353578.8:c.8279A=	ENSP00000315873.4:p.Lys2760=
ENST00000409809.5:c.8279A=	ENSP00000386844.1:p.Lys2760=
ENST00000472056.5:c.7076A=	ENSP00000418285.1:p.Lys2359=
ENST00000491769.1:n.5339A=
NM_004369.3:c.8897A= , LRG_473t1:c.8897A=	NP_004360.2:p.Lys2966=
NM_057166.4:c.7076A=	NP_476507.3:p.Lys2359=
NM_057167.3:c.8279A=	NP_476508.2:p.Lys2760=
XM_005246065.1:c.8297A=	XP_005246122.1:p.Lys2766=
XM_005246066.1:c.7676A=	XP_005246123.1:p.Lys2559=
XM_006712253.1:c.8396A=	XP_006712316.1:p.Lys2799=
XM_011510574.1:c.8894A=	XP_011508876.1:p.Lys2965=
XM_011510575.1:c.6491A=	XP_011508877.1:p.Lys2164=
XM_017003304.1:c.6491A=	XP_016858793.1:p.Lys2164=
XM_024452684.1:c.7676A=	XP_024308452.1:p.Lys2559=
NM_004369.4:c.8897A= MANE Select	NP_004360.2:p.Lys2966=
NM_057166.5:c.7076A=	NP_476507.3:p.Lys2359=
NM_057167.4:c.8279A=	NP_476508.2:p.Lys2760=