Canonical Allele Identifier: CA431678349

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359362C>T , CM000664.2:g.237359362C>T	GRCh38
NC_000002.11:g.238268005C>T , CM000664.1:g.238268005C>T	GRCh37
NC_000002.10:g.237932744C>T	NCBI36
NG_008676.1:g.59846G>A , LRG_473:g.59846G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6309G>A MANE Select	NP_004360.2:p.Lys2103=
ENST00000295550.9:c.6309G>A MANE Select	ENSP00000295550.4:p.Lys2103=
NM_004369.3:c.6309G>A , LRG_473t1:c.6309G>A	NP_004360.2:p.Lys2103=
NM_057166.4:c.4488G>A	NP_476507.3:p.Lys1496=
NM_057166.5:c.4488G>A	NP_476507.3:p.Lys1496=
NM_057167.3:c.5691G>A	NP_476508.2:p.Lys1897=
NM_057167.4:c.5691G>A	NP_476508.2:p.Lys1897=
ENST00000295550.8:c.6309G>A	ENSP00000295550.4:p.Lys2103=
ENST00000347401.7:c.4488G>A	ENSP00000315609.4:p.Lys1496=
ENST00000353578.8:c.5691G>A	ENSP00000315873.4:p.Lys1897=
ENST00000353578.9:c.5691G>A	ENSP00000315873.4:p.Lys1897=
ENST00000409809.5:c.5691G>A	ENSP00000386844.1:p.Lys1897=
ENST00000472056.5:c.4488G>A	ENSP00000418285.1:p.Lys1496=
XM_005246065.1:c.5709G>A	XP_005246122.1:p.Lys1903=
XM_005246066.1:c.5088G>A	XP_005246123.1:p.Lys1696=
XM_006712253.1:c.5808G>A	XP_006712316.1:p.Lys1936=
XM_011510574.1:c.6306G>A	XP_011508876.1:p.Lys2102=
XM_011510575.1:c.3903G>A	XP_011508877.1:p.Lys1301=
XM_017003304.1:c.3903G>A	XP_016858793.1:p.Lys1301=
XM_024452684.1:c.5088G>A	XP_024308452.1:p.Lys1696=