Canonical Allele Identifier: CA1337608739

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340623T= , CM000664.2:g.237340623T=	GRCh38
NC_000002.11:g.238249266T= , CM000664.1:g.238249266T=	GRCh37
NC_000002.10:g.237914005T=	NCBI36
NG_008676.1:g.78585A= , LRG_473:g.78585A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.938A=
ENST00000353578.9:c.7675A=	ENSP00000315873.4:p.Lys2559=
ENST00000682957.1:c.296A=
ENST00000684508.1:n.560A=
ENST00000295550.9:c.8293A= MANE Select	ENSP00000295550.4:p.Lys2765=
ENST00000295550.8:c.8293A=	ENSP00000295550.4:p.Lys2765=
ENST00000347401.7:c.6469A=	ENSP00000315609.4:p.Lys2157=
ENST00000353578.8:c.7675A=	ENSP00000315873.4:p.Lys2559=
ENST00000409809.5:c.7675A=	ENSP00000386844.1:p.Lys2559=
ENST00000472056.5:c.6472A=	ENSP00000418285.1:p.Lys2158=
ENST00000491769.1:n.4735A=
NM_004369.3:c.8293A= , LRG_473t1:c.8293A=	NP_004360.2:p.Lys2765=
NM_057166.4:c.6472A=	NP_476507.3:p.Lys2158=
NM_057167.3:c.7675A=	NP_476508.2:p.Lys2559=
XM_005246065.1:c.7693A=	XP_005246122.1:p.Lys2565=
XM_005246066.1:c.7072A=	XP_005246123.1:p.Lys2358=
XM_006712253.1:c.7792A=	XP_006712316.1:p.Lys2598=
XM_011510574.1:c.8290A=	XP_011508876.1:p.Lys2764=
XM_011510575.1:c.5887A=	XP_011508877.1:p.Lys1963=
XM_017003304.1:c.5887A=	XP_016858793.1:p.Lys1963=
XM_024452684.1:c.7072A=	XP_024308452.1:p.Lys2358=
NM_004369.4:c.8293A= MANE Select	NP_004360.2:p.Lys2765=
NM_057166.5:c.6472A=	NP_476507.3:p.Lys2158=
NM_057167.4:c.7675A=	NP_476508.2:p.Lys2559=