Canonical Allele Identifier: CA913189745

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333552T>C , CM000664.2:g.237333552T>C	GRCh38
NC_000002.11:g.238242195T>C , CM000664.1:g.238242195T>C	GRCh37
NC_000002.10:g.237906934T>C	NCBI36
NG_008676.1:g.85656A>G , LRG_473:g.85656A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9230-4A>G MANE Select	NP_004360.2:n.9230-4A>G
ENST00000295550.9:c.9230-4A>G MANE Select	ENSP00000295550.4:n.9230-4A>G
NM_004369.3:c.9230-4A>G , LRG_473t1:c.9230-4A>G	NP_004360.2:n.9230-4A>G
NM_057166.4:c.7409-4A>G	NP_476507.3:n.7409-4A>G
NM_057166.5:c.7409-4A>G	NP_476507.3:n.7409-4A>G
NM_057167.3:c.8612-4A>G	NP_476508.2:n.8612-4A>G
NM_057167.4:c.8612-4A>G	NP_476508.2:n.8612-4A>G
ENST00000295550.8:c.9230-4A>G	ENSP00000295550.4:n.9230-4A>G
ENST00000347401.7:c.7406-4A>G	ENSP00000315609.4:n.7406-4A>G
ENST00000347401.8:c.1611-4A>G
ENST00000353578.8:c.8612-4A>G	ENSP00000315873.4:n.8612-4A>G
ENST00000353578.9:c.8612-4A>G	ENSP00000315873.4:n.8612-4A>G
ENST00000409809.5:c.8612-4A>G	ENSP00000386844.1:n.8612-4A>G
ENST00000472056.5:c.7409-4A>G	ENSP00000418285.1:n.7409-4A>G
ENST00000491769.1:n.5672-4A>G
ENST00000493608.1:n.162-4A>G
ENST00000682957.1:c.1357-4A>G
ENST00000683348.1:c.98-6A>G	ENSP00000508058.1:n.98-6A>G
XM_005246065.1:c.8630-4A>G	XP_005246122.1:n.8630-4A>G
XM_005246066.1:c.8009-4A>G	XP_005246123.1:n.8009-4A>G
XM_006712253.1:c.8729-4A>G	XP_006712316.1:n.8729-4A>G
XM_011510574.1:c.9227-4A>G	XP_011508876.1:n.9227-4A>G
XM_011510575.1:c.6824-4A>G	XP_011508877.1:n.6824-4A>G
XM_017003304.1:c.6824-4A>G	XP_016858793.1:n.6824-4A>G
XM_024452684.1:c.8009-4A>G	XP_024308452.1:n.8009-4A>G