Canonical Allele Identifier: CA1337607140

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336329G= , CM000664.2:g.237336329G=	GRCh38
NC_000002.11:g.238244972G= , CM000664.1:g.238244972G=	GRCh37
NC_000002.10:g.237909711G=	NCBI36
NG_008676.1:g.82879C= , LRG_473:g.82879C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1416C=
ENST00000353578.9:c.8153C=	ENSP00000315873.4:p.Ala2718=
ENST00000682957.1:c.898C=
ENST00000684508.1:n.1038C=
ENST00000295550.9:c.8771C= MANE Select	ENSP00000295550.4:p.Ala2924=
ENST00000295550.8:c.8771C=	ENSP00000295550.4:p.Ala2924=
ENST00000347401.7:c.6947C=	ENSP00000315609.4:p.Ala2316=
ENST00000353578.8:c.8153C=	ENSP00000315873.4:p.Ala2718=
ENST00000409809.5:c.8153C=	ENSP00000386844.1:p.Ala2718=
ENST00000472056.5:c.6950C=	ENSP00000418285.1:p.Ala2317=
ENST00000491769.1:n.5213C=
NM_004369.3:c.8771C= , LRG_473t1:c.8771C=	NP_004360.2:p.Ala2924=
NM_057166.4:c.6950C=	NP_476507.3:p.Ala2317=
NM_057167.3:c.8153C=	NP_476508.2:p.Ala2718=
XM_005246065.1:c.8171C=	XP_005246122.1:p.Ala2724=
XM_005246066.1:c.7550C=	XP_005246123.1:p.Ala2517=
XM_006712253.1:c.8270C=	XP_006712316.1:p.Ala2757=
XM_011510574.1:c.8768C=	XP_011508876.1:p.Ala2923=
XM_011510575.1:c.6365C=	XP_011508877.1:p.Ala2122=
XM_017003304.1:c.6365C=	XP_016858793.1:p.Ala2122=
XM_024452684.1:c.7550C=	XP_024308452.1:p.Ala2517=
NM_004369.4:c.8771C= MANE Select	NP_004360.2:p.Ala2924=
NM_057166.5:c.6950C=	NP_476507.3:p.Ala2317=
NM_057167.4:c.8153C=	NP_476508.2:p.Ala2718=