Canonical Allele Identifier: CA2187309

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333442C>A , CM000664.2:g.237333442C>A	GRCh38
NC_000002.11:g.238242085C>A , CM000664.1:g.238242085C>A	GRCh37
NC_000002.10:g.237906824C>A	NCBI36
NG_008676.1:g.85766G>T , LRG_473:g.85766G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9328+8G>T MANE Select	NP_004360.2:n.9328+8G>T
ENST00000295550.9:c.9328+8G>T MANE Select	ENSP00000295550.4:n.9328+8G>T
NM_004369.3:c.9328+8G>T , LRG_473t1:c.9328+8G>T	NP_004360.2:n.9328+8G>T
NM_057166.4:c.7507+8G>T	NP_476507.3:n.7507+8G>T
NM_057166.5:c.7507+8G>T	NP_476507.3:n.7507+8G>T
NM_057167.3:c.8710+8G>T	NP_476508.2:n.8710+8G>T
NM_057167.4:c.8710+8G>T	NP_476508.2:n.8710+8G>T
ENST00000295550.8:c.9328+8G>T	ENSP00000295550.4:n.9328+8G>T
ENST00000347401.7:c.7504+8G>T	ENSP00000315609.4:n.7504+8G>T
ENST00000347401.8:c.1709+8G>T
ENST00000353578.8:c.8710+8G>T	ENSP00000315873.4:n.8710+8G>T
ENST00000353578.9:c.8710+8G>T	ENSP00000315873.4:n.8710+8G>T
ENST00000409809.5:c.8710+8G>T	ENSP00000386844.1:n.8710+8G>T
ENST00000472056.5:c.7507+8G>T	ENSP00000418285.1:n.7507+8G>T
ENST00000491769.1:n.5770+8G>T
ENST00000493608.1:n.268G>T
ENST00000682957.1:c.1455+8G>T
ENST00000683348.1:c.194+8G>T	ENSP00000508058.1:n.194+8G>T
XM_005246065.1:c.8728+8G>T	XP_005246122.1:n.8728+8G>T
XM_005246066.1:c.8107+8G>T	XP_005246123.1:n.8107+8G>T
XM_006712253.1:c.8827+8G>T	XP_006712316.1:n.8827+8G>T
XM_011510574.1:c.9325+8G>T	XP_011508876.1:n.9325+8G>T
XM_011510575.1:c.6922+8G>T	XP_011508877.1:n.6922+8G>T
XM_017003304.1:c.6922+8G>T	XP_016858793.1:n.6922+8G>T
XM_024452684.1:c.8107+8G>T	XP_024308452.1:n.8107+8G>T