Canonical Allele Identifier: CA67816437

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368848C>T , CM000664.2:g.237368848C>T	GRCh38
NC_000002.11:g.238277491C>T , CM000664.1:g.238277491C>T	GRCh37
NC_000002.10:g.237942230C>T	NCBI36
NG_008676.1:g.50360G>A , LRG_473:g.50360G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4615G>A MANE Select	NP_004360.2:p.Gly1539Arg
ENST00000295550.9:c.4615G>A MANE Select	ENSP00000295550.4:p.Gly1539Arg
NM_004369.3:c.4615G>A , LRG_473t1:c.4615G>A	NP_004360.2:p.Gly1539Arg
NM_057166.4:c.2794G>A	NP_476507.3:p.Gly932Arg
NM_057166.5:c.2794G>A	NP_476507.3:p.Gly932Arg
NM_057167.3:c.3997G>A	NP_476508.2:p.Gly1333Arg
NM_057167.4:c.3997G>A	NP_476508.2:p.Gly1333Arg
ENST00000295550.8:c.4615G>A	ENSP00000295550.4:p.Gly1539Arg
ENST00000347401.7:c.2794G>A	ENSP00000315609.4:p.Gly932Arg
ENST00000353578.8:c.3997G>A	ENSP00000315873.4:p.Gly1333Arg
ENST00000353578.9:c.3997G>A	ENSP00000315873.4:p.Gly1333Arg
ENST00000409809.5:c.3997G>A	ENSP00000386844.1:p.Gly1333Arg
ENST00000472056.5:c.2794G>A	ENSP00000418285.1:p.Gly932Arg
ENST00000684597.1:c.117-172G>A
XM_005246065.1:c.4015G>A	XP_005246122.1:p.Gly1339Arg
XM_005246066.1:c.3394G>A	XP_005246123.1:p.Gly1132Arg
XM_006712253.1:c.4286-172G>A	XP_006712316.1:n.4286-172G>A
XM_011510574.1:c.4612G>A	XP_011508876.1:p.Gly1538Arg
XM_011510575.1:c.2209G>A	XP_011508877.1:p.Gly737Arg
XM_017003304.1:c.2209G>A	XP_016858793.1:p.Gly737Arg
XM_024452684.1:c.3394G>A	XP_024308452.1:p.Gly1132Arg