Canonical Allele Identifier: CA351189268

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334841G>A , CM000664.2:g.237334841G>A	GRCh38
NC_000002.11:g.238243484G>A , CM000664.1:g.238243484G>A	GRCh37
NC_000002.10:g.237908223G>A	NCBI36
NG_008676.1:g.84367C>T , LRG_473:g.84367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1293C>T
ENST00000353578.9:c.8396C>T	ENSP00000315873.4:p.Ala2799Val
ENST00000682957.1:c.1141C>T
ENST00000295550.9:c.9014C>T MANE Select	ENSP00000295550.4:p.Ala3005Val
ENST00000295550.8:c.9014C>T	ENSP00000295550.4:p.Ala3005Val
ENST00000347401.7:c.7190C>T	ENSP00000315609.4:p.Ala2397Val
ENST00000353578.8:c.8396C>T	ENSP00000315873.4:p.Ala2799Val
ENST00000409809.5:c.8396C>T	ENSP00000386844.1:p.Ala2799Val
ENST00000472056.5:c.7193C>T	ENSP00000418285.1:p.Ala2398Val
ENST00000491769.1:n.5456C>T
NM_004369.3:c.9014C>T , LRG_473t1:c.9014C>T	NP_004360.2:p.Ala3005Val
NM_057166.4:c.7193C>T	NP_476507.3:p.Ala2398Val
NM_057167.3:c.8396C>T	NP_476508.2:p.Ala2799Val
XM_005246065.1:c.8414C>T	XP_005246122.1:p.Ala2805Val
XM_005246066.1:c.7793C>T	XP_005246123.1:p.Ala2598Val
XM_006712253.1:c.8513C>T	XP_006712316.1:p.Ala2838Val
XM_011510574.1:c.9011C>T	XP_011508876.1:p.Ala3004Val
XM_011510575.1:c.6608C>T	XP_011508877.1:p.Ala2203Val
XM_017003304.1:c.6608C>T	XP_016858793.1:p.Ala2203Val
XM_024452684.1:c.7793C>T	XP_024308452.1:p.Ala2598Val
NM_004369.4:c.9014C>T MANE Select	NP_004360.2:p.Ala3005Val
NM_057166.5:c.7193C>T	NP_476507.3:p.Ala2398Val
NM_057167.4:c.8396C>T	NP_476508.2:p.Ala2799Val