Canonical Allele Identifier: CA67835585

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340606C>T , CM000664.2:g.237340606C>T	GRCh38
NC_000002.11:g.238249249C>T , CM000664.1:g.238249249C>T	GRCh37
NC_000002.10:g.237913988C>T	NCBI36
NG_008676.1:g.78602G>A , LRG_473:g.78602G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8310G>A MANE Select	NP_004360.2:p.Val2770=
ENST00000295550.9:c.8310G>A MANE Select	ENSP00000295550.4:p.Val2770=
NM_004369.3:c.8310G>A , LRG_473t1:c.8310G>A	NP_004360.2:p.Val2770=
NM_057166.4:c.6489G>A	NP_476507.3:p.Val2163=
NM_057166.5:c.6489G>A	NP_476507.3:p.Val2163=
NM_057167.3:c.7692G>A	NP_476508.2:p.Val2564=
NM_057167.4:c.7692G>A	NP_476508.2:p.Val2564=
ENST00000295550.8:c.8310G>A	ENSP00000295550.4:p.Val2770=
ENST00000347401.7:c.6486G>A	ENSP00000315609.4:p.Val2162=
ENST00000347401.8:c.955G>A
ENST00000353578.8:c.7692G>A	ENSP00000315873.4:p.Val2564=
ENST00000353578.9:c.7692G>A	ENSP00000315873.4:p.Val2564=
ENST00000409809.5:c.7692G>A	ENSP00000386844.1:p.Val2564=
ENST00000472056.5:c.6489G>A	ENSP00000418285.1:p.Val2163=
ENST00000491769.1:n.4752G>A
ENST00000682957.1:c.313G>A
ENST00000684508.1:n.577G>A
XM_005246065.1:c.7710G>A	XP_005246122.1:p.Val2570=
XM_005246066.1:c.7089G>A	XP_005246123.1:p.Val2363=
XM_006712253.1:c.7809G>A	XP_006712316.1:p.Val2603=
XM_011510574.1:c.8307G>A	XP_011508876.1:p.Val2769=
XM_011510575.1:c.5904G>A	XP_011508877.1:p.Val1968=
XM_017003304.1:c.5904G>A	XP_016858793.1:p.Val1968=
XM_024452684.1:c.7089G>A	XP_024308452.1:p.Val2363=