Canonical Allele Identifier: CA1337608604

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340557C= , CM000664.2:g.237340557C=	GRCh38
NC_000002.11:g.238249200C= , CM000664.1:g.238249200C=	GRCh37
NC_000002.10:g.237913939C=	NCBI36
NG_008676.1:g.78651G= , LRG_473:g.78651G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1004G=
ENST00000353578.9:c.7741G=	ENSP00000315873.4:p.Ala2581=
ENST00000682957.1:c.362G=
ENST00000684508.1:n.626G=
ENST00000295550.9:c.8359G= MANE Select	ENSP00000295550.4:p.Ala2787=
ENST00000295550.8:c.8359G=	ENSP00000295550.4:p.Ala2787=
ENST00000347401.7:c.6535G=	ENSP00000315609.4:p.Ala2179=
ENST00000353578.8:c.7741G=	ENSP00000315873.4:p.Ala2581=
ENST00000409809.5:c.7741G=	ENSP00000386844.1:p.Ala2581=
ENST00000468792.1:n.46G=
ENST00000472056.5:c.6538G=	ENSP00000418285.1:p.Ala2180=
ENST00000491769.1:n.4801G=
NM_004369.3:c.8359G= , LRG_473t1:c.8359G=	NP_004360.2:p.Ala2787=
NM_057166.4:c.6538G=	NP_476507.3:p.Ala2180=
NM_057167.3:c.7741G=	NP_476508.2:p.Ala2581=
XM_005246065.1:c.7759G=	XP_005246122.1:p.Ala2587=
XM_005246066.1:c.7138G=	XP_005246123.1:p.Ala2380=
XM_006712253.1:c.7858G=	XP_006712316.1:p.Ala2620=
XM_011510574.1:c.8356G=	XP_011508876.1:p.Ala2786=
XM_011510575.1:c.5953G=	XP_011508877.1:p.Ala1985=
XM_017003304.1:c.5953G=	XP_016858793.1:p.Ala1985=
XM_024452684.1:c.7138G=	XP_024308452.1:p.Ala2380=
NM_004369.4:c.8359G= MANE Select	NP_004360.2:p.Ala2787=
NM_057166.5:c.6538G=	NP_476507.3:p.Ala2180=
NM_057167.4:c.7741G=	NP_476508.2:p.Ala2581=