Canonical Allele Identifier: CA2188543

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237364375T>A , CM000664.2:g.237364375T>A	GRCh38
NC_000002.11:g.238273018T>A , CM000664.1:g.238273018T>A	GRCh37
NC_000002.10:g.237937757T>A	NCBI36
NG_008676.1:g.54833A>T , LRG_473:g.54833A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5892A>T MANE Select	NP_004360.2:p.Arg1964Ser
ENST00000295550.9:c.5892A>T MANE Select	ENSP00000295550.4:p.Arg1964Ser
NM_004369.3:c.5892A>T , LRG_473t1:c.5892A>T	NP_004360.2:p.Arg1964Ser
NM_057166.4:c.4071A>T	NP_476507.3:p.Arg1357Ser
NM_057166.5:c.4071A>T	NP_476507.3:p.Arg1357Ser
NM_057167.3:c.5274A>T	NP_476508.2:p.Arg1758Ser
NM_057167.4:c.5274A>T	NP_476508.2:p.Arg1758Ser
ENST00000295550.8:c.5892A>T	ENSP00000295550.4:p.Arg1964Ser
ENST00000347401.7:c.4071A>T	ENSP00000315609.4:p.Arg1357Ser
ENST00000353578.8:c.5274A>T	ENSP00000315873.4:p.Arg1758Ser
ENST00000353578.9:c.5274A>T	ENSP00000315873.4:p.Arg1758Ser
ENST00000409809.5:c.5274A>T	ENSP00000386844.1:p.Arg1758Ser
ENST00000472056.5:c.4071A>T	ENSP00000418285.1:p.Arg1357Ser
XM_005246065.1:c.5292A>T	XP_005246122.1:p.Arg1764Ser
XM_005246066.1:c.4671A>T	XP_005246123.1:p.Arg1557Ser
XM_006712253.1:c.5391A>T	XP_006712316.1:p.Arg1797Ser
XM_011510574.1:c.5889A>T	XP_011508876.1:p.Arg1963Ser
XM_011510575.1:c.3486A>T	XP_011508877.1:p.Arg1162Ser
XM_017003304.1:c.3486A>T	XP_016858793.1:p.Arg1162Ser
XM_024452684.1:c.4671A>T	XP_024308452.1:p.Arg1557Ser