Canonical Allele Identifier: CA2187372

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334809C>G , CM000664.2:g.237334809C>G	GRCh38
NC_000002.11:g.238243452C>G , CM000664.1:g.238243452C>G	GRCh37
NC_000002.10:g.237908191C>G	NCBI36
NG_008676.1:g.84399G>C , LRG_473:g.84399G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9046G>C MANE Select	NP_004360.2:p.Gly3016Arg
ENST00000295550.9:c.9046G>C MANE Select	ENSP00000295550.4:p.Gly3016Arg
NM_004369.3:c.9046G>C , LRG_473t1:c.9046G>C	NP_004360.2:p.Gly3016Arg
NM_057166.4:c.7225G>C	NP_476507.3:p.Gly2409Arg
NM_057166.5:c.7225G>C	NP_476507.3:p.Gly2409Arg
NM_057167.3:c.8428G>C	NP_476508.2:p.Gly2810Arg
NM_057167.4:c.8428G>C	NP_476508.2:p.Gly2810Arg
ENST00000295550.8:c.9046G>C	ENSP00000295550.4:p.Gly3016Arg
ENST00000347401.7:c.7222G>C	ENSP00000315609.4:p.Gly2408Arg
ENST00000347401.8:c.1611-1261G>C
ENST00000353578.8:c.8428G>C	ENSP00000315873.4:p.Gly2810Arg
ENST00000353578.9:c.8428G>C	ENSP00000315873.4:p.Gly2810Arg
ENST00000409809.5:c.8428G>C	ENSP00000386844.1:p.Gly2810Arg
ENST00000472056.5:c.7225G>C	ENSP00000418285.1:p.Gly2409Arg
ENST00000491769.1:n.5488G>C
ENST00000682957.1:c.1173G>C
XM_005246065.1:c.8446G>C	XP_005246122.1:p.Gly2816Arg
XM_005246066.1:c.7825G>C	XP_005246123.1:p.Gly2609Arg
XM_006712253.1:c.8545G>C	XP_006712316.1:p.Gly2849Arg
XM_011510574.1:c.9043G>C	XP_011508876.1:p.Gly3015Arg
XM_011510575.1:c.6640G>C	XP_011508877.1:p.Gly2214Arg
XM_017003304.1:c.6640G>C	XP_016858793.1:p.Gly2214Arg
XM_024452684.1:c.7825G>C	XP_024308452.1:p.Gly2609Arg