Canonical Allele Identifier: CA1337606456

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334786G= , CM000664.2:g.237334786G=	GRCh38
NC_000002.11:g.238243429G= , CM000664.1:g.238243429G=	GRCh37
NC_000002.10:g.237908168G=	NCBI36
NG_008676.1:g.84422C= , LRG_473:g.84422C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1238C=
ENST00000353578.9:c.8451C=	ENSP00000315873.4:p.Thr2817=
ENST00000682957.1:c.1196C=
ENST00000295550.9:c.9069C= MANE Select	ENSP00000295550.4:p.Thr3023=
ENST00000295550.8:c.9069C=	ENSP00000295550.4:p.Thr3023=
ENST00000347401.7:c.7245C=	ENSP00000315609.4:p.Thr2415=
ENST00000353578.8:c.8451C=	ENSP00000315873.4:p.Thr2817=
ENST00000409809.5:c.8451C=	ENSP00000386844.1:p.Thr2817=
ENST00000472056.5:c.7248C=	ENSP00000418285.1:p.Thr2416=
ENST00000491769.1:n.5511C=
ENST00000493608.1:n.1C=
NM_004369.3:c.9069C= , LRG_473t1:c.9069C=	NP_004360.2:p.Thr3023=
NM_057166.4:c.7248C=	NP_476507.3:p.Thr2416=
NM_057167.3:c.8451C=	NP_476508.2:p.Thr2817=
XM_005246065.1:c.8469C=	XP_005246122.1:p.Thr2823=
XM_005246066.1:c.7848C=	XP_005246123.1:p.Thr2616=
XM_006712253.1:c.8568C=	XP_006712316.1:p.Thr2856=
XM_011510574.1:c.9066C=	XP_011508876.1:p.Thr3022=
XM_011510575.1:c.6663C=	XP_011508877.1:p.Thr2221=
XM_017003304.1:c.6663C=	XP_016858793.1:p.Thr2221=
XM_024452684.1:c.7848C=	XP_024308452.1:p.Thr2616=
NM_004369.4:c.9069C= MANE Select	NP_004360.2:p.Thr3023=
NM_057166.5:c.7248C=	NP_476507.3:p.Thr2416=
NM_057167.4:c.8451C=	NP_476508.2:p.Thr2817=