Canonical Allele Identifier: CA1337607231

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336501T= , CM000664.2:g.237336501T=	GRCh38
NC_000002.11:g.238245144T= , CM000664.1:g.238245144T=	GRCh37
NC_000002.10:g.237909883T=	NCBI36
NG_008676.1:g.82707A= , LRG_473:g.82707A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1244A=
ENST00000353578.9:c.7981A=	ENSP00000315873.4:p.Thr2661=
ENST00000682957.1:c.726A=
ENST00000684508.1:n.866A=
ENST00000295550.9:c.8599A= MANE Select	ENSP00000295550.4:p.Thr2867=
ENST00000295550.8:c.8599A=	ENSP00000295550.4:p.Thr2867=
ENST00000347401.7:c.6775A=	ENSP00000315609.4:p.Thr2259=
ENST00000353578.8:c.7981A=	ENSP00000315873.4:p.Thr2661=
ENST00000409809.5:c.7981A=	ENSP00000386844.1:p.Thr2661=
ENST00000472056.5:c.6778A=	ENSP00000418285.1:p.Thr2260=
ENST00000491769.1:n.5041A=
NM_004369.3:c.8599A= , LRG_473t1:c.8599A=	NP_004360.2:p.Thr2867=
NM_057166.4:c.6778A=	NP_476507.3:p.Thr2260=
NM_057167.3:c.7981A=	NP_476508.2:p.Thr2661=
XM_005246065.1:c.7999A=	XP_005246122.1:p.Thr2667=
XM_005246066.1:c.7378A=	XP_005246123.1:p.Thr2460=
XM_006712253.1:c.8098A=	XP_006712316.1:p.Thr2700=
XM_011510574.1:c.8596A=	XP_011508876.1:p.Thr2866=
XM_011510575.1:c.6193A=	XP_011508877.1:p.Thr2065=
XM_017003304.1:c.6193A=	XP_016858793.1:p.Thr2065=
XM_024452684.1:c.7378A=	XP_024308452.1:p.Thr2460=
NM_004369.4:c.8599A= MANE Select	NP_004360.2:p.Thr2867=
NM_057166.5:c.6778A=	NP_476507.3:p.Thr2260=
NM_057167.4:c.7981A=	NP_476508.2:p.Thr2661=