Canonical Allele Identifier: CA1337606431

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334727C= , CM000664.2:g.237334727C=	GRCh38
NC_000002.11:g.238243370C= , CM000664.1:g.238243370C=	GRCh37
NC_000002.10:g.237908109C=	NCBI36
NG_008676.1:g.84481G= , LRG_473:g.84481G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9128G= MANE Select	NP_004360.2:p.Arg3043=
ENST00000295550.9:c.9128G= MANE Select	ENSP00000295550.4:p.Arg3043=
NM_004369.3:c.9128G= , LRG_473t1:c.9128G=	NP_004360.2:p.Arg3043=
NM_057166.4:c.7307G=	NP_476507.3:p.Arg2436=
NM_057166.5:c.7307G=	NP_476507.3:p.Arg2436=
NM_057167.3:c.8510G=	NP_476508.2:p.Arg2837=
NM_057167.4:c.8510G=	NP_476508.2:p.Arg2837=
ENST00000295550.8:c.9128G=	ENSP00000295550.4:p.Arg3043=
ENST00000347401.7:c.7304G=	ENSP00000315609.4:p.Arg2435=
ENST00000347401.8:c.1611-1179G=
ENST00000353578.8:c.8510G=	ENSP00000315873.4:p.Arg2837=
ENST00000353578.9:c.8510G=	ENSP00000315873.4:p.Arg2837=
ENST00000409809.5:c.8510G=	ENSP00000386844.1:p.Arg2837=
ENST00000472056.5:c.7307G=	ENSP00000418285.1:p.Arg2436=
ENST00000491769.1:n.5570G=
ENST00000493608.1:n.60G=
ENST00000682957.1:c.1255G=
XM_005246065.1:c.8528G=	XP_005246122.1:p.Arg2843=
XM_005246066.1:c.7907G=	XP_005246123.1:p.Arg2636=
XM_006712253.1:c.8627G=	XP_006712316.1:p.Arg2876=
XM_011510574.1:c.9125G=	XP_011508876.1:p.Arg3042=
XM_011510575.1:c.6722G=	XP_011508877.1:p.Arg2241=
XM_017003304.1:c.6722G=	XP_016858793.1:p.Arg2241=
XM_024452684.1:c.7907G=	XP_024308452.1:p.Arg2636=