Canonical Allele Identifier: CA351185570

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325669C>T , CM000664.2:g.237325669C>T	GRCh38
NC_000002.11:g.238234312C>T , CM000664.1:g.238234312C>T	GRCh37
NC_000002.10:g.237899051C>T	NCBI36
NG_008676.1:g.93539G>A , LRG_473:g.93539G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9384G>A MANE Select	NP_004360.2:p.Trp3128Ter
ENST00000295550.9:c.9384G>A MANE Select	ENSP00000295550.4:p.Trp3128Ter
NM_004369.3:c.9384G>A , LRG_473t1:c.9384G>A	NP_004360.2:p.Trp3128Ter
NM_057166.4:c.7563G>A	NP_476507.3:p.Trp2521Ter
NM_057166.5:c.7563G>A	NP_476507.3:p.Trp2521Ter
NM_057167.3:c.8766G>A	NP_476508.2:p.Trp2922Ter
NM_057167.4:c.8766G>A	NP_476508.2:p.Trp2922Ter
ENST00000295550.8:c.9384G>A	ENSP00000295550.4:p.Trp3128Ter
ENST00000347401.7:c.7560G>A	ENSP00000315609.4:p.Trp2520Ter
ENST00000347401.8:c.1765G>A
ENST00000353578.8:c.8766G>A	ENSP00000315873.4:p.Trp2922Ter
ENST00000353578.9:c.8766G>A	ENSP00000315873.4:p.Trp2922Ter
ENST00000409809.5:c.8766G>A	ENSP00000386844.1:p.Trp2922Ter
ENST00000472056.5:c.7563G>A	ENSP00000418285.1:p.Trp2521Ter
ENST00000473258.1:n.4512G>A
ENST00000491769.1:n.5826G>A
ENST00000682957.1:c.1511G>A
ENST00000683348.1:c.250G>A	ENSP00000508058.1:n.250G>A
XM_005246065.1:c.8784G>A	XP_005246122.1:p.Trp2928Ter
XM_005246066.1:c.8163G>A	XP_005246123.1:p.Trp2721Ter
XM_006712253.1:c.8883G>A	XP_006712316.1:p.Trp2961Ter
XM_011510574.1:c.9381G>A	XP_011508876.1:p.Trp3127Ter
XM_011510575.1:c.6978G>A	XP_011508877.1:p.Trp2326Ter
XM_017003304.1:c.6978G>A	XP_016858793.1:p.Trp2326Ter
XM_024452684.1:c.8163G>A	XP_024308452.1:p.Trp2721Ter