Canonical Allele Identifier: CA1337608446

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340483G= , CM000664.2:g.237340483G=	GRCh38
NC_000002.11:g.238249126G= , CM000664.1:g.238249126G=	GRCh37
NC_000002.10:g.237913865G=	NCBI36
NG_008676.1:g.78725C= , LRG_473:g.78725C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1078C=
ENST00000353578.9:c.7815C=	ENSP00000315873.4:p.Arg2605=
ENST00000682957.1:c.436C=
ENST00000684508.1:n.700C=
ENST00000295550.9:c.8433C= MANE Select	ENSP00000295550.4:p.Arg2811=
ENST00000295550.8:c.8433C=	ENSP00000295550.4:p.Arg2811=
ENST00000347401.7:c.6609C=	ENSP00000315609.4:p.Arg2203=
ENST00000353578.8:c.7815C=	ENSP00000315873.4:p.Arg2605=
ENST00000409809.5:c.7815C=	ENSP00000386844.1:p.Arg2605=
ENST00000468792.1:n.120C=
ENST00000472056.5:c.6612C=	ENSP00000418285.1:p.Arg2204=
ENST00000491769.1:n.4875C=
NM_004369.3:c.8433C= , LRG_473t1:c.8433C=	NP_004360.2:p.Arg2811=
NM_057166.4:c.6612C=	NP_476507.3:p.Arg2204=
NM_057167.3:c.7815C=	NP_476508.2:p.Arg2605=
XM_005246065.1:c.7833C=	XP_005246122.1:p.Arg2611=
XM_005246066.1:c.7212C=	XP_005246123.1:p.Arg2404=
XM_006712253.1:c.7932C=	XP_006712316.1:p.Arg2644=
XM_011510574.1:c.8430C=	XP_011508876.1:p.Arg2810=
XM_011510575.1:c.6027C=	XP_011508877.1:p.Arg2009=
XM_017003304.1:c.6027C=	XP_016858793.1:p.Arg2009=
XM_024452684.1:c.7212C=	XP_024308452.1:p.Arg2404=
NM_004369.4:c.8433C= MANE Select	NP_004360.2:p.Arg2811=
NM_057166.5:c.6612C=	NP_476507.3:p.Arg2204=
NM_057167.4:c.7815C=	NP_476508.2:p.Arg2605=