Canonical Allele Identifier: CA1337607085

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336228C= , CM000664.2:g.237336228C=	GRCh38
NC_000002.11:g.238244871C= , CM000664.1:g.238244871C=	GRCh37
NC_000002.10:g.237909610C=	NCBI36
NG_008676.1:g.82980G= , LRG_473:g.82980G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1517G=
ENST00000353578.9:c.8254G=	ENSP00000315873.4:p.Ala2752=
ENST00000682957.1:c.999G=
ENST00000684508.1:n.1139G=
ENST00000295550.9:c.8872G= MANE Select	ENSP00000295550.4:p.Ala2958=
ENST00000295550.8:c.8872G=	ENSP00000295550.4:p.Ala2958=
ENST00000347401.7:c.7048G=	ENSP00000315609.4:p.Ala2350=
ENST00000353578.8:c.8254G=	ENSP00000315873.4:p.Ala2752=
ENST00000409809.5:c.8254G=	ENSP00000386844.1:p.Ala2752=
ENST00000472056.5:c.7051G=	ENSP00000418285.1:p.Ala2351=
ENST00000491769.1:n.5314G=
NM_004369.3:c.8872G= , LRG_473t1:c.8872G=	NP_004360.2:p.Ala2958=
NM_057166.4:c.7051G=	NP_476507.3:p.Ala2351=
NM_057167.3:c.8254G=	NP_476508.2:p.Ala2752=
XM_005246065.1:c.8272G=	XP_005246122.1:p.Ala2758=
XM_005246066.1:c.7651G=	XP_005246123.1:p.Ala2551=
XM_006712253.1:c.8371G=	XP_006712316.1:p.Ala2791=
XM_011510574.1:c.8869G=	XP_011508876.1:p.Ala2957=
XM_011510575.1:c.6466G=	XP_011508877.1:p.Ala2156=
XM_017003304.1:c.6466G=	XP_016858793.1:p.Ala2156=
XM_024452684.1:c.7651G=	XP_024308452.1:p.Ala2551=
NM_004369.4:c.8872G= MANE Select	NP_004360.2:p.Ala2958=
NM_057166.5:c.7051G=	NP_476507.3:p.Ala2351=
NM_057167.4:c.8254G=	NP_476508.2:p.Ala2752=