Canonical Allele Identifier: CA1337606503

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334885C= , CM000664.2:g.237334885C=	GRCh38
NC_000002.11:g.238243528C= , CM000664.1:g.238243528C=	GRCh37
NC_000002.10:g.237908267C=	NCBI36
NG_008676.1:g.84323G= , LRG_473:g.84323G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1610+1250G=
ENST00000353578.9:c.8352G=	ENSP00000315873.4:p.Lys2784=
ENST00000682957.1:c.1097G=
ENST00000295550.9:c.8970G= MANE Select	ENSP00000295550.4:p.Lys2990=
ENST00000295550.8:c.8970G=	ENSP00000295550.4:p.Lys2990=
ENST00000347401.7:c.7146G=	ENSP00000315609.4:p.Lys2382=
ENST00000353578.8:c.8352G=	ENSP00000315873.4:p.Lys2784=
ENST00000409809.5:c.8352G=	ENSP00000386844.1:p.Lys2784=
ENST00000472056.5:c.7149G=	ENSP00000418285.1:p.Lys2383=
ENST00000491769.1:n.5412G=
NM_004369.3:c.8970G= , LRG_473t1:c.8970G=	NP_004360.2:p.Lys2990=
NM_057166.4:c.7149G=	NP_476507.3:p.Lys2383=
NM_057167.3:c.8352G=	NP_476508.2:p.Lys2784=
XM_005246065.1:c.8370G=	XP_005246122.1:p.Lys2790=
XM_005246066.1:c.7749G=	XP_005246123.1:p.Lys2583=
XM_006712253.1:c.8469G=	XP_006712316.1:p.Lys2823=
XM_011510574.1:c.8967G=	XP_011508876.1:p.Lys2989=
XM_011510575.1:c.6564G=	XP_011508877.1:p.Lys2188=
XM_017003304.1:c.6564G=	XP_016858793.1:p.Lys2188=
XM_024452684.1:c.7749G=	XP_024308452.1:p.Lys2583=
NM_004369.4:c.8970G= MANE Select	NP_004360.2:p.Lys2990=
NM_057166.5:c.7149G=	NP_476507.3:p.Lys2383=
NM_057167.4:c.8352G=	NP_476508.2:p.Lys2784=