Canonical Allele Identifier: CA2188629

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365947G>A , CM000664.2:g.237365947G>A	GRCh38
NC_000002.11:g.238274590G>A , CM000664.1:g.238274590G>A	GRCh37
NC_000002.10:g.237939329G>A	NCBI36
NG_008676.1:g.53261C>T , LRG_473:g.53261C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5589C>T MANE Select	NP_004360.2:p.Asp1863=
ENST00000295550.9:c.5589C>T MANE Select	ENSP00000295550.4:p.Asp1863=
NM_004369.3:c.5589C>T , LRG_473t1:c.5589C>T	NP_004360.2:p.Asp1863=
NM_057166.4:c.3768C>T	NP_476507.3:p.Asp1256=
NM_057166.5:c.3768C>T	NP_476507.3:p.Asp1256=
NM_057167.3:c.4971C>T	NP_476508.2:p.Asp1657=
NM_057167.4:c.4971C>T	NP_476508.2:p.Asp1657=
ENST00000295550.8:c.5589C>T	ENSP00000295550.4:p.Asp1863=
ENST00000347401.7:c.3768C>T	ENSP00000315609.4:p.Asp1256=
ENST00000353578.8:c.4971C>T	ENSP00000315873.4:p.Asp1657=
ENST00000353578.9:c.4971C>T	ENSP00000315873.4:p.Asp1657=
ENST00000409809.5:c.4971C>T	ENSP00000386844.1:p.Asp1657=
ENST00000472056.5:c.3768C>T	ENSP00000418285.1:p.Asp1256=
XM_005246065.1:c.4989C>T	XP_005246122.1:p.Asp1663=
XM_005246066.1:c.4368C>T	XP_005246123.1:p.Asp1456=
XM_006712253.1:c.5088C>T	XP_006712316.1:p.Asp1696=
XM_011510574.1:c.5586C>T	XP_011508876.1:p.Asp1862=
XM_011510575.1:c.3183C>T	XP_011508877.1:p.Asp1061=
XM_017003304.1:c.3183C>T	XP_016858793.1:p.Asp1061=
XM_024452684.1:c.4368C>T	XP_024308452.1:p.Asp1456=