Canonical Allele Identifier: CA2188071

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350208C>G , CM000664.2:g.237350208C>G	GRCh38
NC_000002.11:g.238258851C>G , CM000664.1:g.238258851C>G	GRCh37
NC_000002.10:g.237923590C>G	NCBI36
NG_008676.1:g.69000G>C , LRG_473:g.69000G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6818G>C MANE Select	NP_004360.2:p.Gly2273Ala
ENST00000295550.9:c.6818G>C MANE Select	ENSP00000295550.4:p.Gly2273Ala
NM_004369.3:c.6818G>C , LRG_473t1:c.6818G>C	NP_004360.2:p.Gly2273Ala
NM_057166.4:c.4997G>C	NP_476507.3:p.Gly1666Ala
NM_057166.5:c.4997G>C	NP_476507.3:p.Gly1666Ala
NM_057167.3:c.6200G>C	NP_476508.2:p.Gly2067Ala
NM_057167.4:c.6200G>C	NP_476508.2:p.Gly2067Ala
ENST00000295550.8:c.6818G>C	ENSP00000295550.4:p.Gly2273Ala
ENST00000347401.7:c.4997G>C	ENSP00000315609.4:p.Gly1666Ala
ENST00000353578.8:c.6200G>C	ENSP00000315873.4:p.Gly2067Ala
ENST00000353578.9:c.6200G>C	ENSP00000315873.4:p.Gly2067Ala
ENST00000409809.5:c.6200G>C	ENSP00000386844.1:p.Gly2067Ala
ENST00000472056.5:c.4997G>C	ENSP00000418285.1:p.Gly1666Ala
ENST00000491769.1:n.1072G>C
XM_005246065.1:c.6218G>C	XP_005246122.1:p.Gly2073Ala
XM_005246066.1:c.5597G>C	XP_005246123.1:p.Gly1866Ala
XM_006712253.1:c.6317G>C	XP_006712316.1:p.Gly2106Ala
XM_011510574.1:c.6815G>C	XP_011508876.1:p.Gly2272Ala
XM_011510575.1:c.4412G>C	XP_011508877.1:p.Gly1471Ala
XM_017003304.1:c.4412G>C	XP_016858793.1:p.Gly1471Ala
XM_024452684.1:c.5597G>C	XP_024308452.1:p.Gly1866Ala