Canonical Allele Identifier: CA1337608791

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340653C= , CM000664.2:g.237340653C=	GRCh38
NC_000002.11:g.238249296C= , CM000664.1:g.238249296C=	GRCh37
NC_000002.10:g.237914035C=	NCBI36
NG_008676.1:g.78555G= , LRG_473:g.78555G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.908G=
ENST00000353578.9:c.7645G=	ENSP00000315873.4:p.Ala2549=
ENST00000682957.1:c.266G=
ENST00000684508.1:n.530G=
ENST00000295550.9:c.8263G= MANE Select	ENSP00000295550.4:p.Ala2755=
ENST00000295550.8:c.8263G=	ENSP00000295550.4:p.Ala2755=
ENST00000347401.7:c.6439G=	ENSP00000315609.4:p.Ala2147=
ENST00000353578.8:c.7645G=	ENSP00000315873.4:p.Ala2549=
ENST00000409809.5:c.7645G=	ENSP00000386844.1:p.Ala2549=
ENST00000472056.5:c.6442G=	ENSP00000418285.1:p.Ala2148=
ENST00000491769.1:n.4705G=
NM_004369.3:c.8263G= , LRG_473t1:c.8263G=	NP_004360.2:p.Ala2755=
NM_057166.4:c.6442G=	NP_476507.3:p.Ala2148=
NM_057167.3:c.7645G=	NP_476508.2:p.Ala2549=
XM_005246065.1:c.7663G=	XP_005246122.1:p.Ala2555=
XM_005246066.1:c.7042G=	XP_005246123.1:p.Ala2348=
XM_006712253.1:c.7762G=	XP_006712316.1:p.Ala2588=
XM_011510574.1:c.8260G=	XP_011508876.1:p.Ala2754=
XM_011510575.1:c.5857G=	XP_011508877.1:p.Ala1953=
XM_017003304.1:c.5857G=	XP_016858793.1:p.Ala1953=
XM_024452684.1:c.7042G=	XP_024308452.1:p.Ala2348=
NM_004369.4:c.8263G= MANE Select	NP_004360.2:p.Ala2755=
NM_057166.5:c.6442G=	NP_476507.3:p.Ala2148=
NM_057167.4:c.7645G=	NP_476508.2:p.Ala2549=