Canonical Allele Identifier: CA2188672

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366768C>T , CM000664.2:g.237366768C>T	GRCh38
NC_000002.11:g.238275411C>T , CM000664.1:g.238275411C>T	GRCh37
NC_000002.10:g.237940150C>T	NCBI36
NG_008676.1:g.52440G>A , LRG_473:g.52440G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5419G>A MANE Select	NP_004360.2:p.Glu1807Lys
ENST00000295550.9:c.5419G>A MANE Select	ENSP00000295550.4:p.Glu1807Lys
NM_004369.3:c.5419G>A , LRG_473t1:c.5419G>A	NP_004360.2:p.Glu1807Lys
NM_057166.4:c.3598G>A	NP_476507.3:p.Glu1200Lys
NM_057166.5:c.3598G>A	NP_476507.3:p.Glu1200Lys
NM_057167.3:c.4801G>A	NP_476508.2:p.Glu1601Lys
NM_057167.4:c.4801G>A	NP_476508.2:p.Glu1601Lys
ENST00000295550.8:c.5419G>A	ENSP00000295550.4:p.Glu1807Lys
ENST00000347401.7:c.3598G>A	ENSP00000315609.4:p.Glu1200Lys
ENST00000353578.8:c.4801G>A	ENSP00000315873.4:p.Glu1601Lys
ENST00000353578.9:c.4801G>A	ENSP00000315873.4:p.Glu1601Lys
ENST00000409809.5:c.4801G>A	ENSP00000386844.1:p.Glu1601Lys
ENST00000472056.5:c.3598G>A	ENSP00000418285.1:p.Glu1200Lys
XM_005246065.1:c.4819G>A	XP_005246122.1:p.Glu1607Lys
XM_005246066.1:c.4198G>A	XP_005246123.1:p.Glu1400Lys
XM_006712253.1:c.4918G>A	XP_006712316.1:p.Glu1640Lys
XM_011510574.1:c.5416G>A	XP_011508876.1:p.Glu1806Lys
XM_011510575.1:c.3013G>A	XP_011508877.1:p.Glu1005Lys
XM_017003304.1:c.3013G>A	XP_016858793.1:p.Glu1005Lys
XM_024452684.1:c.4198G>A	XP_024308452.1:p.Glu1400Lys