Canonical Allele Identifier: CA1337610918

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344527G= , CM000664.2:g.237344527G=	GRCh38
NC_000002.11:g.238253170G= , CM000664.1:g.238253170G=	GRCh37
NC_000002.10:g.237917909G=	NCBI36
NG_008676.1:g.74681C= , LRG_473:g.74681C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.136C=
ENST00000353578.9:c.6873C=	ENSP00000315873.4:p.Asn2291=
ENST00000295550.9:c.7491C= MANE Select	ENSP00000295550.4:p.Asn2497=
ENST00000295550.8:c.7491C=	ENSP00000295550.4:p.Asn2497=
ENST00000347401.7:c.5667C=	ENSP00000315609.4:p.Asn1889=
ENST00000353578.8:c.6873C=	ENSP00000315873.4:p.Asn2291=
ENST00000409809.5:c.6873C=	ENSP00000386844.1:p.Asn2291=
ENST00000472056.5:c.5670C=	ENSP00000418285.1:p.Asn1890=
ENST00000491769.1:n.1745C=
NM_004369.3:c.7491C= , LRG_473t1:c.7491C=	NP_004360.2:p.Asn2497=
NM_057166.4:c.5670C=	NP_476507.3:p.Asn1890=
NM_057167.3:c.6873C=	NP_476508.2:p.Asn2291=
XM_005246065.1:c.6891C=	XP_005246122.1:p.Asn2297=
XM_005246066.1:c.6270C=	XP_005246123.1:p.Asn2090=
XM_006712253.1:c.6990C=	XP_006712316.1:p.Asn2330=
XM_011510574.1:c.7488C=	XP_011508876.1:p.Asn2496=
XM_011510575.1:c.5085C=	XP_011508877.1:p.Asn1695=
XM_017003304.1:c.5085C=	XP_016858793.1:p.Asn1695=
XM_024452684.1:c.6270C=	XP_024308452.1:p.Asn2090=
NM_004369.4:c.7491C= MANE Select	NP_004360.2:p.Asn2497=
NM_057166.5:c.5670C=	NP_476507.3:p.Asn1890=
NM_057167.4:c.6873C=	NP_476508.2:p.Asn2291=