Canonical Allele Identifier: CA2189221

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237374895G>A , CM000664.2:g.237374895G>A	GRCh38
NC_000002.11:g.238283538G>A , CM000664.1:g.238283538G>A	GRCh37
NC_000002.10:g.237948277G>A	NCBI36
NG_008676.1:g.44313C>T , LRG_473:g.44313C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.3196C>T MANE Select	NP_004360.2:p.Arg1066Cys
ENST00000295550.9:c.3196C>T MANE Select	ENSP00000295550.4:p.Arg1066Cys
NM_004369.3:c.3196C>T , LRG_473t1:c.3196C>T	NP_004360.2:p.Arg1066Cys
NM_057164.4:c.1975C>T	NP_476505.3:p.Arg659Cys
NM_057164.5:c.1975C>T	NP_476505.3:p.Arg659Cys
NM_057165.4:c.2578C>T	NP_476506.3:p.Arg860Cys
NM_057165.5:c.2578C>T	NP_476506.3:p.Arg860Cys
NM_057166.4:c.1375C>T	NP_476507.3:p.Arg459Cys
NM_057166.5:c.1375C>T	NP_476507.3:p.Arg459Cys
NM_057167.3:c.2578C>T	NP_476508.2:p.Arg860Cys
NM_057167.4:c.2578C>T	NP_476508.2:p.Arg860Cys
ENST00000295550.8:c.3196C>T	ENSP00000295550.4:p.Arg1066Cys
ENST00000347401.7:c.1375C>T	ENSP00000315609.4:p.Arg459Cys
ENST00000353578.8:c.2578C>T	ENSP00000315873.4:p.Arg860Cys
ENST00000353578.9:c.2578C>T	ENSP00000315873.4:p.Arg860Cys
ENST00000392003.6:c.1975C>T	ENSP00000375860.2:p.Arg659Cys
ENST00000392004.7:c.2578C>T	ENSP00000375861.3:p.Arg860Cys
ENST00000409809.5:c.2578C>T	ENSP00000386844.1:p.Arg860Cys
ENST00000472056.5:c.1375C>T	ENSP00000418285.1:p.Arg459Cys
XM_005246065.1:c.2596C>T	XP_005246122.1:p.Arg866Cys
XM_005246066.1:c.1975C>T	XP_005246123.1:p.Arg659Cys
XM_006712253.1:c.3196C>T	XP_006712316.1:p.Arg1066Cys
XM_011510574.1:c.3196C>T	XP_011508876.1:p.Arg1066Cys
XM_011510575.1:c.790C>T	XP_011508877.1:p.Arg264Cys
XM_017003304.1:c.790C>T	XP_016858793.1:p.Arg264Cys
XM_024452684.1:c.1975C>T	XP_024308452.1:p.Arg659Cys