Canonical Allele Identifier: CA351191313

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336266A>T , CM000664.2:g.237336266A>T	GRCh38
NC_000002.11:g.238244909A>T , CM000664.1:g.238244909A>T	GRCh37
NC_000002.10:g.237909648A>T	NCBI36
NG_008676.1:g.82942T>A , LRG_473:g.82942T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1479T>A
ENST00000353578.9:c.8216T>A	ENSP00000315873.4:p.Val2739Glu
ENST00000682957.1:c.961T>A
ENST00000684508.1:n.1101T>A
ENST00000295550.9:c.8834T>A MANE Select	ENSP00000295550.4:p.Val2945Glu
ENST00000295550.8:c.8834T>A	ENSP00000295550.4:p.Val2945Glu
ENST00000347401.7:c.7010T>A	ENSP00000315609.4:p.Val2337Glu
ENST00000353578.8:c.8216T>A	ENSP00000315873.4:p.Val2739Glu
ENST00000409809.5:c.8216T>A	ENSP00000386844.1:p.Val2739Glu
ENST00000472056.5:c.7013T>A	ENSP00000418285.1:p.Val2338Glu
ENST00000491769.1:n.5276T>A
NM_004369.3:c.8834T>A , LRG_473t1:c.8834T>A	NP_004360.2:p.Val2945Glu
NM_057166.4:c.7013T>A	NP_476507.3:p.Val2338Glu
NM_057167.3:c.8216T>A	NP_476508.2:p.Val2739Glu
XM_005246065.1:c.8234T>A	XP_005246122.1:p.Val2745Glu
XM_005246066.1:c.7613T>A	XP_005246123.1:p.Val2538Glu
XM_006712253.1:c.8333T>A	XP_006712316.1:p.Val2778Glu
XM_011510574.1:c.8831T>A	XP_011508876.1:p.Val2944Glu
XM_011510575.1:c.6428T>A	XP_011508877.1:p.Val2143Glu
XM_017003304.1:c.6428T>A	XP_016858793.1:p.Val2143Glu
XM_024452684.1:c.7613T>A	XP_024308452.1:p.Val2538Glu
NM_004369.4:c.8834T>A MANE Select	NP_004360.2:p.Val2945Glu
NM_057166.5:c.7013T>A	NP_476507.3:p.Val2338Glu
NM_057167.4:c.8216T>A	NP_476508.2:p.Val2739Glu