Canonical Allele Identifier: CA351186336

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366012C>T , CM000664.2:g.237366012C>T	GRCh38
NC_000002.11:g.238274655C>T , CM000664.1:g.238274655C>T	GRCh37
NC_000002.10:g.237939394C>T	NCBI36
NG_008676.1:g.53196G>A , LRG_473:g.53196G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5524G>A MANE Select	NP_004360.2:p.Gly1842Arg
ENST00000295550.9:c.5524G>A MANE Select	ENSP00000295550.4:p.Gly1842Arg
NM_004369.3:c.5524G>A , LRG_473t1:c.5524G>A	NP_004360.2:p.Gly1842Arg
NM_057166.4:c.3703G>A	NP_476507.3:p.Gly1235Arg
NM_057166.5:c.3703G>A	NP_476507.3:p.Gly1235Arg
NM_057167.3:c.4906G>A	NP_476508.2:p.Gly1636Arg
NM_057167.4:c.4906G>A	NP_476508.2:p.Gly1636Arg
ENST00000295550.8:c.5524G>A	ENSP00000295550.4:p.Gly1842Arg
ENST00000347401.7:c.3703G>A	ENSP00000315609.4:p.Gly1235Arg
ENST00000353578.8:c.4906G>A	ENSP00000315873.4:p.Gly1636Arg
ENST00000353578.9:c.4906G>A	ENSP00000315873.4:p.Gly1636Arg
ENST00000409809.5:c.4906G>A	ENSP00000386844.1:p.Gly1636Arg
ENST00000472056.5:c.3703G>A	ENSP00000418285.1:p.Gly1235Arg
XM_005246065.1:c.4924G>A	XP_005246122.1:p.Gly1642Arg
XM_005246066.1:c.4303G>A	XP_005246123.1:p.Gly1435Arg
XM_006712253.1:c.5023G>A	XP_006712316.1:p.Gly1675Arg
XM_011510574.1:c.5521G>A	XP_011508876.1:p.Gly1841Arg
XM_011510575.1:c.3118G>A	XP_011508877.1:p.Gly1040Arg
XM_017003304.1:c.3118G>A	XP_016858793.1:p.Gly1040Arg
XM_024452684.1:c.4303G>A	XP_024308452.1:p.Gly1435Arg