Canonical Allele Identifier: CA2187285

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325701C>T , CM000664.2:g.237325701C>T	GRCh38
NC_000002.11:g.238234344C>T , CM000664.1:g.238234344C>T	GRCh37
NC_000002.10:g.237899083C>T	NCBI36
NG_008676.1:g.93507G>A , LRG_473:g.93507G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1733G>A
ENST00000353578.9:c.8734G>A	ENSP00000315873.4:p.Glu2912Lys
ENST00000682957.1:c.1479G>A
ENST00000683348.1:c.218G>A	ENSP00000508058.1:n.218G>A
ENST00000295550.9:c.9352G>A MANE Select	ENSP00000295550.4:p.Glu3118Lys
ENST00000295550.8:c.9352G>A	ENSP00000295550.4:p.Glu3118Lys
ENST00000347401.7:c.7528G>A	ENSP00000315609.4:p.Glu2510Lys
ENST00000353578.8:c.8734G>A	ENSP00000315873.4:p.Glu2912Lys
ENST00000409809.5:c.8734G>A	ENSP00000386844.1:p.Glu2912Lys
ENST00000472056.5:c.7531G>A	ENSP00000418285.1:p.Glu2511Lys
ENST00000473258.1:n.4480G>A
ENST00000491769.1:n.5794G>A
NM_004369.3:c.9352G>A , LRG_473t1:c.9352G>A	NP_004360.2:p.Glu3118Lys
NM_057166.4:c.7531G>A	NP_476507.3:p.Glu2511Lys
NM_057167.3:c.8734G>A	NP_476508.2:p.Glu2912Lys
XM_005246065.1:c.8752G>A	XP_005246122.1:p.Glu2918Lys
XM_005246066.1:c.8131G>A	XP_005246123.1:p.Glu2711Lys
XM_006712253.1:c.8851G>A	XP_006712316.1:p.Glu2951Lys
XM_011510574.1:c.9349G>A	XP_011508876.1:p.Glu3117Lys
XM_011510575.1:c.6946G>A	XP_011508877.1:p.Glu2316Lys
XM_017003304.1:c.6946G>A	XP_016858793.1:p.Glu2316Lys
XM_024452684.1:c.8131G>A	XP_024308452.1:p.Glu2711Lys
NM_004369.4:c.9352G>A MANE Select	NP_004360.2:p.Glu3118Lys
NM_057166.5:c.7531G>A	NP_476507.3:p.Glu2511Lys
NM_057167.4:c.8734G>A	NP_476508.2:p.Glu2912Lys