Canonical Allele Identifier: CA2188707

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366911G>C , CM000664.2:g.237366911G>C	GRCh38
NC_000002.11:g.238275554G>C , CM000664.1:g.238275554G>C	GRCh37
NC_000002.10:g.237940293G>C	NCBI36
NG_008676.1:g.52297C>G , LRG_473:g.52297C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5276C>G MANE Select	NP_004360.2:p.Ala1759Gly
ENST00000295550.9:c.5276C>G MANE Select	ENSP00000295550.4:p.Ala1759Gly
NM_004369.3:c.5276C>G , LRG_473t1:c.5276C>G	NP_004360.2:p.Ala1759Gly
NM_057166.4:c.3455C>G	NP_476507.3:p.Ala1152Gly
NM_057166.5:c.3455C>G	NP_476507.3:p.Ala1152Gly
NM_057167.3:c.4658C>G	NP_476508.2:p.Ala1553Gly
NM_057167.4:c.4658C>G	NP_476508.2:p.Ala1553Gly
ENST00000295550.8:c.5276C>G	ENSP00000295550.4:p.Ala1759Gly
ENST00000347401.7:c.3455C>G	ENSP00000315609.4:p.Ala1152Gly
ENST00000353578.8:c.4658C>G	ENSP00000315873.4:p.Ala1553Gly
ENST00000353578.9:c.4658C>G	ENSP00000315873.4:p.Ala1553Gly
ENST00000409809.5:c.4658C>G	ENSP00000386844.1:p.Ala1553Gly
ENST00000472056.5:c.3455C>G	ENSP00000418285.1:p.Ala1152Gly
XM_005246065.1:c.4676C>G	XP_005246122.1:p.Ala1559Gly
XM_005246066.1:c.4055C>G	XP_005246123.1:p.Ala1352Gly
XM_006712253.1:c.4775C>G	XP_006712316.1:p.Ala1592Gly
XM_011510574.1:c.5273C>G	XP_011508876.1:p.Ala1758Gly
XM_011510575.1:c.2870C>G	XP_011508877.1:p.Ala957Gly
XM_017003304.1:c.2870C>G	XP_016858793.1:p.Ala957Gly
XM_024452684.1:c.4055C>G	XP_024308452.1:p.Ala1352Gly