Canonical Allele Identifier: CA351217709

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361756C>T , CM000664.2:g.237361756C>T	GRCh38
NC_000002.11:g.238270399C>T , CM000664.1:g.238270399C>T	GRCh37
NC_000002.10:g.237935138C>T	NCBI36
NG_008676.1:g.57452G>A , LRG_473:g.57452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6139G>A MANE Select	NP_004360.2:p.Gly2047Ser
ENST00000295550.9:c.6139G>A MANE Select	ENSP00000295550.4:p.Gly2047Ser
NM_004369.3:c.6139G>A , LRG_473t1:c.6139G>A	NP_004360.2:p.Gly2047Ser
NM_057166.4:c.4318G>A	NP_476507.3:p.Gly1440Ser
NM_057166.5:c.4318G>A	NP_476507.3:p.Gly1440Ser
NM_057167.3:c.5521G>A	NP_476508.2:p.Gly1841Ser
NM_057167.4:c.5521G>A	NP_476508.2:p.Gly1841Ser
ENST00000295550.8:c.6139G>A	ENSP00000295550.4:p.Gly2047Ser
ENST00000347401.7:c.4318G>A	ENSP00000315609.4:p.Gly1440Ser
ENST00000353578.8:c.5521G>A	ENSP00000315873.4:p.Gly1841Ser
ENST00000353578.9:c.5521G>A	ENSP00000315873.4:p.Gly1841Ser
ENST00000409809.5:c.5521G>A	ENSP00000386844.1:p.Gly1841Ser
ENST00000472056.5:c.4318G>A	ENSP00000418285.1:p.Gly1440Ser
XM_005246065.1:c.5539G>A	XP_005246122.1:p.Gly1847Ser
XM_005246066.1:c.4918G>A	XP_005246123.1:p.Gly1640Ser
XM_006712253.1:c.5638G>A	XP_006712316.1:p.Gly1880Ser
XM_011510574.1:c.6136G>A	XP_011508876.1:p.Gly2046Ser
XM_011510575.1:c.3733G>A	XP_011508877.1:p.Gly1245Ser
XM_017003304.1:c.3733G>A	XP_016858793.1:p.Gly1245Ser
XM_024452684.1:c.4918G>A	XP_024308452.1:p.Gly1640Ser