Canonical Allele Identifier: CA2187624

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340779T>C , CM000664.2:g.237340779T>C	GRCh38
NC_000002.11:g.238249422T>C , CM000664.1:g.238249422T>C	GRCh37
NC_000002.10:g.237914161T>C	NCBI36
NG_008676.1:g.78429A>G , LRG_473:g.78429A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8137A>G MANE Select	NP_004360.2:p.Arg2713Gly
ENST00000295550.9:c.8137A>G MANE Select	ENSP00000295550.4:p.Arg2713Gly
NM_004369.3:c.8137A>G , LRG_473t1:c.8137A>G	NP_004360.2:p.Arg2713Gly
NM_057166.4:c.6316A>G	NP_476507.3:p.Arg2106Gly
NM_057166.5:c.6316A>G	NP_476507.3:p.Arg2106Gly
NM_057167.3:c.7519A>G	NP_476508.2:p.Arg2507Gly
NM_057167.4:c.7519A>G	NP_476508.2:p.Arg2507Gly
ENST00000295550.8:c.8137A>G	ENSP00000295550.4:p.Arg2713Gly
ENST00000347401.7:c.6313A>G	ENSP00000315609.4:p.Arg2105Gly
ENST00000347401.8:c.782A>G
ENST00000353578.8:c.7519A>G	ENSP00000315873.4:p.Arg2507Gly
ENST00000353578.9:c.7519A>G	ENSP00000315873.4:p.Arg2507Gly
ENST00000409809.5:c.7519A>G	ENSP00000386844.1:p.Arg2507Gly
ENST00000472056.5:c.6316A>G	ENSP00000418285.1:p.Arg2106Gly
ENST00000491769.1:n.4579A>G
ENST00000682957.1:c.140A>G
ENST00000684508.1:n.404A>G
XM_005246065.1:c.7537A>G	XP_005246122.1:p.Arg2513Gly
XM_005246066.1:c.6916A>G	XP_005246123.1:p.Arg2306Gly
XM_006712253.1:c.7636A>G	XP_006712316.1:p.Arg2546Gly
XM_011510574.1:c.8134A>G	XP_011508876.1:p.Arg2712Gly
XM_011510575.1:c.5731A>G	XP_011508877.1:p.Arg1911Gly
XM_017003304.1:c.5731A>G	XP_016858793.1:p.Arg1911Gly
XM_024452684.1:c.6916A>G	XP_024308452.1:p.Arg2306Gly