Canonical Allele Identifier: CA1337608478

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340500C= , CM000664.2:g.237340500C=	GRCh38
NC_000002.11:g.238249143C= , CM000664.1:g.238249143C=	GRCh37
NC_000002.10:g.237913882C=	NCBI36
NG_008676.1:g.78708G= , LRG_473:g.78708G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1061G=
ENST00000353578.9:c.7798G=	ENSP00000315873.4:p.Glu2600=
ENST00000682957.1:c.419G=
ENST00000684508.1:n.683G=
ENST00000295550.9:c.8416G= MANE Select	ENSP00000295550.4:p.Glu2806=
ENST00000295550.8:c.8416G=	ENSP00000295550.4:p.Glu2806=
ENST00000347401.7:c.6592G=	ENSP00000315609.4:p.Glu2198=
ENST00000353578.8:c.7798G=	ENSP00000315873.4:p.Glu2600=
ENST00000409809.5:c.7798G=	ENSP00000386844.1:p.Glu2600=
ENST00000468792.1:n.103G=
ENST00000472056.5:c.6595G=	ENSP00000418285.1:p.Glu2199=
ENST00000491769.1:n.4858G=
NM_004369.3:c.8416G= , LRG_473t1:c.8416G=	NP_004360.2:p.Glu2806=
NM_057166.4:c.6595G=	NP_476507.3:p.Glu2199=
NM_057167.3:c.7798G=	NP_476508.2:p.Glu2600=
XM_005246065.1:c.7816G=	XP_005246122.1:p.Glu2606=
XM_005246066.1:c.7195G=	XP_005246123.1:p.Glu2399=
XM_006712253.1:c.7915G=	XP_006712316.1:p.Glu2639=
XM_011510574.1:c.8413G=	XP_011508876.1:p.Glu2805=
XM_011510575.1:c.6010G=	XP_011508877.1:p.Glu2004=
XM_017003304.1:c.6010G=	XP_016858793.1:p.Glu2004=
XM_024452684.1:c.7195G=	XP_024308452.1:p.Glu2399=
NM_004369.4:c.8416G= MANE Select	NP_004360.2:p.Glu2806=
NM_057166.5:c.6595G=	NP_476507.3:p.Glu2199=
NM_057167.4:c.7798G=	NP_476508.2:p.Glu2600=