Canonical Allele Identifier: CA1337610916

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344518C= , CM000664.2:g.237344518C=	GRCh38
NC_000002.11:g.238253161C= , CM000664.1:g.238253161C=	GRCh37
NC_000002.10:g.237917900C=	NCBI36
NG_008676.1:g.74690G= , LRG_473:g.74690G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.145G=
ENST00000353578.9:c.6882G=	ENSP00000315873.4:p.Lys2294=
ENST00000295550.9:c.7500G= MANE Select	ENSP00000295550.4:p.Lys2500=
ENST00000295550.8:c.7500G=	ENSP00000295550.4:p.Lys2500=
ENST00000347401.7:c.5676G=	ENSP00000315609.4:p.Lys1892=
ENST00000353578.8:c.6882G=	ENSP00000315873.4:p.Lys2294=
ENST00000409809.5:c.6882G=	ENSP00000386844.1:p.Lys2294=
ENST00000472056.5:c.5679G=	ENSP00000418285.1:p.Lys1893=
ENST00000491769.1:n.1754G=
NM_004369.3:c.7500G= , LRG_473t1:c.7500G=	NP_004360.2:p.Lys2500=
NM_057166.4:c.5679G=	NP_476507.3:p.Lys1893=
NM_057167.3:c.6882G=	NP_476508.2:p.Lys2294=
XM_005246065.1:c.6900G=	XP_005246122.1:p.Lys2300=
XM_005246066.1:c.6279G=	XP_005246123.1:p.Lys2093=
XM_006712253.1:c.6999G=	XP_006712316.1:p.Lys2333=
XM_011510574.1:c.7497G=	XP_011508876.1:p.Lys2499=
XM_011510575.1:c.5094G=	XP_011508877.1:p.Lys1698=
XM_017003304.1:c.5094G=	XP_016858793.1:p.Lys1698=
XM_024452684.1:c.6279G=	XP_024308452.1:p.Lys2093=
NM_004369.4:c.7500G= MANE Select	NP_004360.2:p.Lys2500=
NM_057166.5:c.5679G=	NP_476507.3:p.Lys1893=
NM_057167.4:c.6882G=	NP_476508.2:p.Lys2294=