Canonical Allele Identifier: CA1337612310

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237347812G= , CM000664.2:g.237347812G=	GRCh38
NC_000002.11:g.238256455G= , CM000664.1:g.238256455G=	GRCh37
NC_000002.10:g.237921194G=	NCBI36
NG_008676.1:g.71396C= , LRG_473:g.71396C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7024C= MANE Select	NP_004360.2:p.Arg2342=
ENST00000295550.9:c.7024C= MANE Select	ENSP00000295550.4:p.Arg2342=
NM_004369.3:c.7024C= , LRG_473t1:c.7024C=	NP_004360.2:p.Arg2342=
NM_057166.4:c.5203C=	NP_476507.3:p.Arg1735=
NM_057166.5:c.5203C=	NP_476507.3:p.Arg1735=
NM_057167.3:c.6406C=	NP_476508.2:p.Arg2136=
NM_057167.4:c.6406C=	NP_476508.2:p.Arg2136=
ENST00000295550.8:c.7024C=	ENSP00000295550.4:p.Arg2342=
ENST00000347401.7:c.5203C=	ENSP00000315609.4:p.Arg1735=
ENST00000353578.8:c.6406C=	ENSP00000315873.4:p.Arg2136=
ENST00000353578.9:c.6406C=	ENSP00000315873.4:p.Arg2136=
ENST00000409809.5:c.6406C=	ENSP00000386844.1:p.Arg2136=
ENST00000472056.5:c.5203C=	ENSP00000418285.1:p.Arg1735=
ENST00000491769.1:n.1278C=
XM_005246065.1:c.6424C=	XP_005246122.1:p.Arg2142=
XM_005246066.1:c.5803C=	XP_005246123.1:p.Arg1935=
XM_006712253.1:c.6523C=	XP_006712316.1:p.Arg2175=
XM_011510574.1:c.7021C=	XP_011508876.1:p.Arg2341=
XM_011510575.1:c.4618C=	XP_011508877.1:p.Arg1540=
XM_017003304.1:c.4618C=	XP_016858793.1:p.Arg1540=
XM_024452684.1:c.5803C=	XP_024308452.1:p.Arg1935=