Canonical Allele Identifier: CA2187288

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325714C>T , CM000664.2:g.237325714C>T	GRCh38
NC_000002.11:g.238234357C>T , CM000664.1:g.238234357C>T	GRCh37
NC_000002.10:g.237899096C>T	NCBI36
NG_008676.1:g.93494G>A , LRG_473:g.93494G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9339G>A MANE Select	NP_004360.2:p.Lys3113=
ENST00000295550.9:c.9339G>A MANE Select	ENSP00000295550.4:p.Lys3113=
NM_004369.3:c.9339G>A , LRG_473t1:c.9339G>A	NP_004360.2:p.Lys3113=
NM_057166.4:c.7518G>A	NP_476507.3:p.Lys2506=
NM_057166.5:c.7518G>A	NP_476507.3:p.Lys2506=
NM_057167.3:c.8721G>A	NP_476508.2:p.Lys2907=
NM_057167.4:c.8721G>A	NP_476508.2:p.Lys2907=
ENST00000295550.8:c.9339G>A	ENSP00000295550.4:p.Lys3113=
ENST00000347401.7:c.7515G>A	ENSP00000315609.4:p.Lys2505=
ENST00000347401.8:c.1720G>A
ENST00000353578.8:c.8721G>A	ENSP00000315873.4:p.Lys2907=
ENST00000353578.9:c.8721G>A	ENSP00000315873.4:p.Lys2907=
ENST00000409809.5:c.8721G>A	ENSP00000386844.1:p.Lys2907=
ENST00000472056.5:c.7518G>A	ENSP00000418285.1:p.Lys2506=
ENST00000473258.1:n.4467G>A
ENST00000491769.1:n.5781G>A
ENST00000682957.1:c.1466G>A
ENST00000683348.1:c.205G>A	ENSP00000508058.1:n.205G>A
XM_005246065.1:c.8739G>A	XP_005246122.1:p.Lys2913=
XM_005246066.1:c.8118G>A	XP_005246123.1:p.Lys2706=
XM_006712253.1:c.8838G>A	XP_006712316.1:p.Lys2946=
XM_011510574.1:c.9336G>A	XP_011508876.1:p.Lys3112=
XM_011510575.1:c.6933G>A	XP_011508877.1:p.Lys2311=
XM_017003304.1:c.6933G>A	XP_016858793.1:p.Lys2311=
XM_024452684.1:c.8118G>A	XP_024308452.1:p.Lys2706=