Canonical Allele Identifier: CA1337610850

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344387G= , CM000664.2:g.237344387G=	GRCh38
NC_000002.11:g.238253030G= , CM000664.1:g.238253030G=	GRCh37
NC_000002.10:g.237917769G=	NCBI36
NG_008676.1:g.74821C= , LRG_473:g.74821C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.276C=
ENST00000353578.9:c.7013C=	ENSP00000315873.4:p.Thr2338=
ENST00000295550.9:c.7631C= MANE Select	ENSP00000295550.4:p.Thr2544=
ENST00000295550.8:c.7631C=	ENSP00000295550.4:p.Thr2544=
ENST00000347401.7:c.5807C=	ENSP00000315609.4:p.Thr1936=
ENST00000353578.8:c.7013C=	ENSP00000315873.4:p.Thr2338=
ENST00000409809.5:c.7013C=	ENSP00000386844.1:p.Thr2338=
ENST00000472056.5:c.5810C=	ENSP00000418285.1:p.Thr1937=
ENST00000491769.1:n.1885C=
NM_004369.3:c.7631C= , LRG_473t1:c.7631C=	NP_004360.2:p.Thr2544=
NM_057166.4:c.5810C=	NP_476507.3:p.Thr1937=
NM_057167.3:c.7013C=	NP_476508.2:p.Thr2338=
XM_005246065.1:c.7031C=	XP_005246122.1:p.Thr2344=
XM_005246066.1:c.6410C=	XP_005246123.1:p.Thr2137=
XM_006712253.1:c.7130C=	XP_006712316.1:p.Thr2377=
XM_011510574.1:c.7628C=	XP_011508876.1:p.Thr2543=
XM_011510575.1:c.5225C=	XP_011508877.1:p.Thr1742=
XM_017003304.1:c.5225C=	XP_016858793.1:p.Thr1742=
XM_024452684.1:c.6410C=	XP_024308452.1:p.Thr2137=
NM_004369.4:c.7631C= MANE Select	NP_004360.2:p.Thr2544=
NM_057166.5:c.5810C=	NP_476507.3:p.Thr1937=
NM_057167.4:c.7013C=	NP_476508.2:p.Thr2338=