Canonical Allele Identifier: CA2188250

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237357865G>C , CM000664.2:g.237357865G>C	GRCh38
NC_000002.11:g.238266508G>C , CM000664.1:g.238266508G>C	GRCh37
NC_000002.10:g.237931247G>C	NCBI36
NG_008676.1:g.61343C>G , LRG_473:g.61343C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6489C>G MANE Select	NP_004360.2:p.Asp2163Glu
ENST00000295550.9:c.6489C>G MANE Select	ENSP00000295550.4:p.Asp2163Glu
NM_004369.3:c.6489C>G , LRG_473t1:c.6489C>G	NP_004360.2:p.Asp2163Glu
NM_057166.4:c.4668C>G	NP_476507.3:p.Asp1556Glu
NM_057166.5:c.4668C>G	NP_476507.3:p.Asp1556Glu
NM_057167.3:c.5871C>G	NP_476508.2:p.Asp1957Glu
NM_057167.4:c.5871C>G	NP_476508.2:p.Asp1957Glu
ENST00000295550.8:c.6489C>G	ENSP00000295550.4:p.Asp2163Glu
ENST00000347401.7:c.4668C>G	ENSP00000315609.4:p.Asp1556Glu
ENST00000353578.8:c.5871C>G	ENSP00000315873.4:p.Asp1957Glu
ENST00000353578.9:c.5871C>G	ENSP00000315873.4:p.Asp1957Glu
ENST00000409809.5:c.5871C>G	ENSP00000386844.1:p.Asp1957Glu
ENST00000472056.5:c.4668C>G	ENSP00000418285.1:p.Asp1556Glu
ENST00000493475.2:n.19C>G
XM_005246065.1:c.5889C>G	XP_005246122.1:p.Asp1963Glu
XM_005246066.1:c.5268C>G	XP_005246123.1:p.Asp1756Glu
XM_006712253.1:c.5988C>G	XP_006712316.1:p.Asp1996Glu
XM_011510574.1:c.6486C>G	XP_011508876.1:p.Asp2162Glu
XM_011510575.1:c.4083C>G	XP_011508877.1:p.Asp1361Glu
XM_017003304.1:c.4083C>G	XP_016858793.1:p.Asp1361Glu
XM_024452684.1:c.5268C>G	XP_024308452.1:p.Asp1756Glu