Canonical Allele Identifier: CA1337607090

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336232A= , CM000664.2:g.237336232A=	GRCh38
NC_000002.11:g.238244875A= , CM000664.1:g.238244875A=	GRCh37
NC_000002.10:g.237909614A=	NCBI36
NG_008676.1:g.82976T= , LRG_473:g.82976T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1513T=
ENST00000353578.9:c.8250T=	ENSP00000315873.4:p.Ala2750=
ENST00000682957.1:c.995T=
ENST00000684508.1:n.1135T=
ENST00000295550.9:c.8868T= MANE Select	ENSP00000295550.4:p.Ala2956=
ENST00000295550.8:c.8868T=	ENSP00000295550.4:p.Ala2956=
ENST00000347401.7:c.7044T=	ENSP00000315609.4:p.Ala2348=
ENST00000353578.8:c.8250T=	ENSP00000315873.4:p.Ala2750=
ENST00000409809.5:c.8250T=	ENSP00000386844.1:p.Ala2750=
ENST00000472056.5:c.7047T=	ENSP00000418285.1:p.Ala2349=
ENST00000491769.1:n.5310T=
NM_004369.3:c.8868T= , LRG_473t1:c.8868T=	NP_004360.2:p.Ala2956=
NM_057166.4:c.7047T=	NP_476507.3:p.Ala2349=
NM_057167.3:c.8250T=	NP_476508.2:p.Ala2750=
XM_005246065.1:c.8268T=	XP_005246122.1:p.Ala2756=
XM_005246066.1:c.7647T=	XP_005246123.1:p.Ala2549=
XM_006712253.1:c.8367T=	XP_006712316.1:p.Ala2789=
XM_011510574.1:c.8865T=	XP_011508876.1:p.Ala2955=
XM_011510575.1:c.6462T=	XP_011508877.1:p.Ala2154=
XM_017003304.1:c.6462T=	XP_016858793.1:p.Ala2154=
XM_024452684.1:c.7647T=	XP_024308452.1:p.Ala2549=
NM_004369.4:c.8868T= MANE Select	NP_004360.2:p.Ala2956=
NM_057166.5:c.7047T=	NP_476507.3:p.Ala2349=
NM_057167.4:c.8250T=	NP_476508.2:p.Ala2750=