Canonical Allele Identifier: CA431674606

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325636T>C , CM000664.2:g.237325636T>C	GRCh38
NC_000002.11:g.238234279T>C , CM000664.1:g.238234279T>C	GRCh37
NC_000002.10:g.237899018T>C	NCBI36
NG_008676.1:g.93572A>G , LRG_473:g.93572A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1798A>G
ENST00000353578.9:c.8799A>G	ENSP00000315873.4:p.Arg2933=
ENST00000682957.1:c.1544A>G
ENST00000683348.1:c.283A>G	ENSP00000508058.1:n.283A>G
ENST00000295550.9:c.9417A>G MANE Select	ENSP00000295550.4:p.Arg3139=
ENST00000295550.8:c.9417A>G	ENSP00000295550.4:p.Arg3139=
ENST00000347401.7:c.7593A>G	ENSP00000315609.4:p.Arg2531=
ENST00000353578.8:c.8799A>G	ENSP00000315873.4:p.Arg2933=
ENST00000409809.5:c.8799A>G	ENSP00000386844.1:p.Arg2933=
ENST00000472056.5:c.7596A>G	ENSP00000418285.1:p.Arg2532=
ENST00000473258.1:n.4545A>G
ENST00000491769.1:n.5859A>G
NM_004369.3:c.9417A>G , LRG_473t1:c.9417A>G	NP_004360.2:p.Arg3139=
NM_057166.4:c.7596A>G	NP_476507.3:p.Arg2532=
NM_057167.3:c.8799A>G	NP_476508.2:p.Arg2933=
XM_005246065.1:c.8817A>G	XP_005246122.1:p.Arg2939=
XM_005246066.1:c.8196A>G	XP_005246123.1:p.Arg2732=
XM_006712253.1:c.8916A>G	XP_006712316.1:p.Arg2972=
XM_011510574.1:c.9414A>G	XP_011508876.1:p.Arg3138=
XM_011510575.1:c.7011A>G	XP_011508877.1:p.Arg2337=
XM_017003304.1:c.7011A>G	XP_016858793.1:p.Arg2337=
XM_024452684.1:c.8196A>G	XP_024308452.1:p.Arg2732=
NM_004369.4:c.9417A>G MANE Select	NP_004360.2:p.Arg3139=
NM_057166.5:c.7596A>G	NP_476507.3:p.Arg2532=
NM_057167.4:c.8799A>G	NP_476508.2:p.Arg2933=