Canonical Allele Identifier: CA1337610936

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344571T= , CM000664.2:g.237344571T=	GRCh38
NC_000002.11:g.238253214T= , CM000664.1:g.238253214T=	GRCh37
NC_000002.10:g.237917953T=	NCBI36
NG_008676.1:g.74637A= , LRG_473:g.74637A=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7447A= MANE Select	NP_004360.2:p.Lys2483=
ENST00000295550.9:c.7447A= MANE Select	ENSP00000295550.4:p.Lys2483=
NM_004369.3:c.7447A= , LRG_473t1:c.7447A=	NP_004360.2:p.Lys2483=
NM_057166.4:c.5626A=	NP_476507.3:p.Lys1876=
NM_057166.5:c.5626A=	NP_476507.3:p.Lys1876=
NM_057167.3:c.6829A=	NP_476508.2:p.Lys2277=
NM_057167.4:c.6829A=	NP_476508.2:p.Lys2277=
ENST00000295550.8:c.7447A=	ENSP00000295550.4:p.Lys2483=
ENST00000347401.7:c.5623A=	ENSP00000315609.4:p.Lys1875=
ENST00000347401.8:c.92A=
ENST00000353578.8:c.6829A=	ENSP00000315873.4:p.Lys2277=
ENST00000353578.9:c.6829A=	ENSP00000315873.4:p.Lys2277=
ENST00000409809.5:c.6829A=	ENSP00000386844.1:p.Lys2277=
ENST00000472056.5:c.5626A=	ENSP00000418285.1:p.Lys1876=
ENST00000491769.1:n.1701A=
XM_005246065.1:c.6847A=	XP_005246122.1:p.Lys2283=
XM_005246066.1:c.6226A=	XP_005246123.1:p.Lys2076=
XM_006712253.1:c.6946A=	XP_006712316.1:p.Lys2316=
XM_011510574.1:c.7444A=	XP_011508876.1:p.Lys2482=
XM_011510575.1:c.5041A=	XP_011508877.1:p.Lys1681=
XM_017003304.1:c.5041A=	XP_016858793.1:p.Lys1681=
XM_024452684.1:c.6226A=	XP_024308452.1:p.Lys2076=