Canonical Allele Identifier: CA2187437

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336275G>A , CM000664.2:g.237336275G>A	GRCh38
NC_000002.11:g.238244918G>A , CM000664.1:g.238244918G>A	GRCh37
NC_000002.10:g.237909657G>A	NCBI36
NG_008676.1:g.82933C>T , LRG_473:g.82933C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8825C>T MANE Select	NP_004360.2:p.Ala2942Val
ENST00000295550.9:c.8825C>T MANE Select	ENSP00000295550.4:p.Ala2942Val
NM_004369.3:c.8825C>T , LRG_473t1:c.8825C>T	NP_004360.2:p.Ala2942Val
NM_057166.4:c.7004C>T	NP_476507.3:p.Ala2335Val
NM_057166.5:c.7004C>T	NP_476507.3:p.Ala2335Val
NM_057167.3:c.8207C>T	NP_476508.2:p.Ala2736Val
NM_057167.4:c.8207C>T	NP_476508.2:p.Ala2736Val
ENST00000295550.8:c.8825C>T	ENSP00000295550.4:p.Ala2942Val
ENST00000347401.7:c.7001C>T	ENSP00000315609.4:p.Ala2334Val
ENST00000347401.8:c.1470C>T
ENST00000353578.8:c.8207C>T	ENSP00000315873.4:p.Ala2736Val
ENST00000353578.9:c.8207C>T	ENSP00000315873.4:p.Ala2736Val
ENST00000409809.5:c.8207C>T	ENSP00000386844.1:p.Ala2736Val
ENST00000472056.5:c.7004C>T	ENSP00000418285.1:p.Ala2335Val
ENST00000491769.1:n.5267C>T
ENST00000682957.1:c.952C>T
ENST00000684508.1:n.1092C>T
XM_005246065.1:c.8225C>T	XP_005246122.1:p.Ala2742Val
XM_005246066.1:c.7604C>T	XP_005246123.1:p.Ala2535Val
XM_006712253.1:c.8324C>T	XP_006712316.1:p.Ala2775Val
XM_011510574.1:c.8822C>T	XP_011508876.1:p.Ala2941Val
XM_011510575.1:c.6419C>T	XP_011508877.1:p.Ala2140Val
XM_017003304.1:c.6419C>T	XP_016858793.1:p.Ala2140Val
XM_024452684.1:c.7604C>T	XP_024308452.1:p.Ala2535Val