Canonical Allele Identifier: CA67822766

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237324988C>T , CM000664.2:g.237324988C>T	GRCh38
NC_000002.11:g.238233631C>T , CM000664.1:g.238233631C>T	GRCh37
NC_000002.10:g.237898370C>T	NCBI36
NG_008676.1:g.94220G>A , LRG_473:g.94220G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9494-174G>A MANE Select	NP_004360.2:n.9494-174G>A
ENST00000295550.9:c.9494-174G>A MANE Select	ENSP00000295550.4:n.9494-174G>A
NM_004369.3:c.9494-174G>A , LRG_473t1:c.9494-174G>A	NP_004360.2:n.9494-174G>A
NM_057166.4:c.7673-174G>A	NP_476507.3:n.7673-174G>A
NM_057166.5:c.7673-174G>A	NP_476507.3:n.7673-174G>A
NM_057167.3:c.8876-174G>A	NP_476508.2:n.8876-174G>A
NM_057167.4:c.8876-174G>A	NP_476508.2:n.8876-174G>A
ENST00000295550.8:c.9494-174G>A	ENSP00000295550.4:n.9494-174G>A
ENST00000347401.7:c.7670-174G>A	ENSP00000315609.4:n.7670-174G>A
ENST00000347401.8:c.1875-174G>A
ENST00000353578.8:c.8876-174G>A	ENSP00000315873.4:n.8876-174G>A
ENST00000353578.9:c.8876-174G>A	ENSP00000315873.4:n.8876-174G>A
ENST00000409809.5:c.8876-174G>A	ENSP00000386844.1:n.8876-174G>A
ENST00000472056.5:c.7673-174G>A	ENSP00000418285.1:n.7673-174G>A
ENST00000473258.1:n.4622-174G>A
ENST00000491769.1:n.5936-174G>A
ENST00000682957.1:c.1621-174G>A
ENST00000683348.1:c.360-174G>A	ENSP00000508058.1:n.360-174G>A
XM_005246065.1:c.8894-174G>A	XP_005246122.1:n.8894-174G>A
XM_005246066.1:c.8273-174G>A	XP_005246123.1:n.8273-174G>A
XM_006712253.1:c.8993-174G>A	XP_006712316.1:n.8993-174G>A
XM_011510574.1:c.9491-174G>A	XP_011508876.1:n.9491-174G>A
XM_011510575.1:c.7088-174G>A	XP_011508877.1:n.7088-174G>A
XM_017003304.1:c.7088-174G>A	XP_016858793.1:n.7088-174G>A
XM_024452684.1:c.8273-174G>A	XP_024308452.1:n.8273-174G>A