Canonical Allele Identifier: CA2188585

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365783C>T , CM000664.2:g.237365783C>T	GRCh38
NC_000002.11:g.238274426C>T , CM000664.1:g.238274426C>T	GRCh37
NC_000002.10:g.237939165C>T	NCBI36
NG_008676.1:g.53425G>A , LRG_473:g.53425G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5753G>A MANE Select	NP_004360.2:p.Arg1918His
ENST00000295550.9:c.5753G>A MANE Select	ENSP00000295550.4:p.Arg1918His
NM_004369.3:c.5753G>A , LRG_473t1:c.5753G>A	NP_004360.2:p.Arg1918His
NM_057166.4:c.3932G>A	NP_476507.3:p.Arg1311His
NM_057166.5:c.3932G>A	NP_476507.3:p.Arg1311His
NM_057167.3:c.5135G>A	NP_476508.2:p.Arg1712His
NM_057167.4:c.5135G>A	NP_476508.2:p.Arg1712His
ENST00000295550.8:c.5753G>A	ENSP00000295550.4:p.Arg1918His
ENST00000347401.7:c.3932G>A	ENSP00000315609.4:p.Arg1311His
ENST00000353578.8:c.5135G>A	ENSP00000315873.4:p.Arg1712His
ENST00000353578.9:c.5135G>A	ENSP00000315873.4:p.Arg1712His
ENST00000409809.5:c.5135G>A	ENSP00000386844.1:p.Arg1712His
ENST00000472056.5:c.3932G>A	ENSP00000418285.1:p.Arg1311His
XM_005246065.1:c.5153G>A	XP_005246122.1:p.Arg1718His
XM_005246066.1:c.4532G>A	XP_005246123.1:p.Arg1511His
XM_006712253.1:c.5252G>A	XP_006712316.1:p.Arg1751His
XM_011510574.1:c.5750G>A	XP_011508876.1:p.Arg1917His
XM_011510575.1:c.3347G>A	XP_011508877.1:p.Arg1116His
XM_017003304.1:c.3347G>A	XP_016858793.1:p.Arg1116His
XM_024452684.1:c.4532G>A	XP_024308452.1:p.Arg1511His