Canonical Allele Identifier: CA67828665

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333475T>C , CM000664.2:g.237333475T>C	GRCh38
NC_000002.11:g.238242118T>C , CM000664.1:g.238242118T>C	GRCh37
NC_000002.10:g.237906857T>C	NCBI36
NG_008676.1:g.85733A>G , LRG_473:g.85733A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9303A>G MANE Select	NP_004360.2:p.Thr3101=
ENST00000295550.9:c.9303A>G MANE Select	ENSP00000295550.4:p.Thr3101=
NM_004369.3:c.9303A>G , LRG_473t1:c.9303A>G	NP_004360.2:p.Thr3101=
NM_057166.4:c.7482A>G	NP_476507.3:p.Thr2494=
NM_057166.5:c.7482A>G	NP_476507.3:p.Thr2494=
NM_057167.3:c.8685A>G	NP_476508.2:p.Thr2895=
NM_057167.4:c.8685A>G	NP_476508.2:p.Thr2895=
ENST00000295550.8:c.9303A>G	ENSP00000295550.4:p.Thr3101=
ENST00000347401.7:c.7479A>G	ENSP00000315609.4:p.Thr2493=
ENST00000347401.8:c.1684A>G
ENST00000353578.8:c.8685A>G	ENSP00000315873.4:p.Thr2895=
ENST00000353578.9:c.8685A>G	ENSP00000315873.4:p.Thr2895=
ENST00000409809.5:c.8685A>G	ENSP00000386844.1:p.Thr2895=
ENST00000472056.5:c.7482A>G	ENSP00000418285.1:p.Thr2494=
ENST00000491769.1:n.5745A>G
ENST00000493608.1:n.235A>G
ENST00000682957.1:c.1430A>G
ENST00000683348.1:c.169A>G	ENSP00000508058.1:n.169A>G
XM_005246065.1:c.8703A>G	XP_005246122.1:p.Thr2901=
XM_005246066.1:c.8082A>G	XP_005246123.1:p.Thr2694=
XM_006712253.1:c.8802A>G	XP_006712316.1:p.Thr2934=
XM_011510574.1:c.9300A>G	XP_011508876.1:p.Thr3100=
XM_011510575.1:c.6897A>G	XP_011508877.1:p.Thr2299=
XM_017003304.1:c.6897A>G	XP_016858793.1:p.Thr2299=
XM_024452684.1:c.8082A>G	XP_024308452.1:p.Thr2694=