Canonical Allele Identifier: CA1337610877

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344436C= , CM000664.2:g.237344436C=	GRCh38
NC_000002.11:g.238253079C= , CM000664.1:g.238253079C=	GRCh37
NC_000002.10:g.237917818C=	NCBI36
NG_008676.1:g.74772G= , LRG_473:g.74772G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.227G=
ENST00000353578.9:c.6964G=	ENSP00000315873.4:p.Glu2322=
ENST00000295550.9:c.7582G= MANE Select	ENSP00000295550.4:p.Glu2528=
ENST00000295550.8:c.7582G=	ENSP00000295550.4:p.Glu2528=
ENST00000347401.7:c.5758G=	ENSP00000315609.4:p.Glu1920=
ENST00000353578.8:c.6964G=	ENSP00000315873.4:p.Glu2322=
ENST00000409809.5:c.6964G=	ENSP00000386844.1:p.Glu2322=
ENST00000472056.5:c.5761G=	ENSP00000418285.1:p.Glu1921=
ENST00000491769.1:n.1836G=
NM_004369.3:c.7582G= , LRG_473t1:c.7582G=	NP_004360.2:p.Glu2528=
NM_057166.4:c.5761G=	NP_476507.3:p.Glu1921=
NM_057167.3:c.6964G=	NP_476508.2:p.Glu2322=
XM_005246065.1:c.6982G=	XP_005246122.1:p.Glu2328=
XM_005246066.1:c.6361G=	XP_005246123.1:p.Glu2121=
XM_006712253.1:c.7081G=	XP_006712316.1:p.Glu2361=
XM_011510574.1:c.7579G=	XP_011508876.1:p.Glu2527=
XM_011510575.1:c.5176G=	XP_011508877.1:p.Glu1726=
XM_017003304.1:c.5176G=	XP_016858793.1:p.Glu1726=
XM_024452684.1:c.6361G=	XP_024308452.1:p.Glu2121=
NM_004369.4:c.7582G= MANE Select	NP_004360.2:p.Glu2528=
NM_057166.5:c.5761G=	NP_476507.3:p.Glu1921=
NM_057167.4:c.6964G=	NP_476508.2:p.Glu2322=