Canonical Allele Identifier: CA351189410

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237367152C>T , CM000664.2:g.237367152C>T	GRCh38
NC_000002.11:g.238275795C>T , CM000664.1:g.238275795C>T	GRCh37
NC_000002.10:g.237940534C>T	NCBI36
NG_008676.1:g.52056G>A , LRG_473:g.52056G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5035G>A MANE Select	NP_004360.2:p.Gly1679Arg
ENST00000295550.9:c.5035G>A MANE Select	ENSP00000295550.4:p.Gly1679Arg
NM_004369.3:c.5035G>A , LRG_473t1:c.5035G>A	NP_004360.2:p.Gly1679Arg
NM_057166.4:c.3214G>A	NP_476507.3:p.Gly1072Arg
NM_057166.5:c.3214G>A	NP_476507.3:p.Gly1072Arg
NM_057167.3:c.4417G>A	NP_476508.2:p.Gly1473Arg
NM_057167.4:c.4417G>A	NP_476508.2:p.Gly1473Arg
ENST00000295550.8:c.5035G>A	ENSP00000295550.4:p.Gly1679Arg
ENST00000347401.7:c.3214G>A	ENSP00000315609.4:p.Gly1072Arg
ENST00000353578.8:c.4417G>A	ENSP00000315873.4:p.Gly1473Arg
ENST00000353578.9:c.4417G>A	ENSP00000315873.4:p.Gly1473Arg
ENST00000409809.5:c.4417G>A	ENSP00000386844.1:p.Gly1473Arg
ENST00000472056.5:c.3214G>A	ENSP00000418285.1:p.Gly1072Arg
ENST00000684597.1:c.365G>A
XM_005246065.1:c.4435G>A	XP_005246122.1:p.Gly1479Arg
XM_005246066.1:c.3814G>A	XP_005246123.1:p.Gly1272Arg
XM_006712253.1:c.4534G>A	XP_006712316.1:p.Gly1512Arg
XM_011510574.1:c.5032G>A	XP_011508876.1:p.Gly1678Arg
XM_011510575.1:c.2629G>A	XP_011508877.1:p.Gly877Arg
XM_017003304.1:c.2629G>A	XP_016858793.1:p.Gly877Arg
XM_024452684.1:c.3814G>A	XP_024308452.1:p.Gly1272Arg