Canonical Allele Identifier: CA1337630342

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237388145G= , CM000664.2:g.237388145G=	GRCh38
NC_000002.11:g.238296788G= , CM000664.1:g.238296788G=	GRCh37
NC_000002.10:g.237961527G=	NCBI36
NG_008676.1:g.31063C= , LRG_473:g.31063C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.749C= MANE Select	NP_004360.2:p.Ser250=
ENST00000295550.9:c.749C= MANE Select	ENSP00000295550.4:p.Ser250=
NM_004369.3:c.749C= , LRG_473t1:c.749C=	NP_004360.2:p.Ser250=
NM_057164.4:c.92-6646C=	NP_476505.3:n.92-6646C=
NM_057164.5:c.92-6646C=	NP_476505.3:n.92-6646C=
NM_057165.4:c.131C=	NP_476506.3:p.Ser44=
NM_057165.5:c.131C=	NP_476506.3:p.Ser44=
NM_057166.4:c.92-6646C=	NP_476507.3:n.92-6646C=
NM_057166.5:c.92-6646C=	NP_476507.3:n.92-6646C=
NM_057167.3:c.131C=	NP_476508.2:p.Ser44=
NM_057167.4:c.131C=	NP_476508.2:p.Ser44=
ENST00000295550.8:c.749C=	ENSP00000295550.4:p.Ser250=
ENST00000347401.7:c.92-6646C=	ENSP00000315609.4:n.92-6646C=
ENST00000353578.8:c.131C=	ENSP00000315873.4:p.Ser44=
ENST00000353578.9:c.131C=	ENSP00000315873.4:p.Ser44=
ENST00000392003.6:c.92-6646C=	ENSP00000375860.2:n.92-6646C=
ENST00000392004.7:c.131C=	ENSP00000375861.3:p.Ser44=
ENST00000409809.5:c.131C=	ENSP00000386844.1:p.Ser44=
ENST00000433762.1:c.749C=	ENSP00000389539.1:p.Ser250=
ENST00000472056.5:c.92-6646C=	ENSP00000418285.1:n.92-6646C=
ENST00000682405.1:n.86-6646C=
XM_005246065.1:c.749C=	XP_005246122.1:p.Ser250=
XM_005246066.1:c.92-6646C=	XP_005246123.1:n.92-6646C=
XM_006712253.1:c.749C=	XP_006712316.1:p.Ser250=
XM_011510574.1:c.749C=	XP_011508876.1:p.Ser250=
XM_011510575.1:c.91+8582C=	XP_011508877.1:n.91+8582C=
XM_017003304.1:c.91+8582C=	XP_016858793.1:n.91+8582C=
XM_024452684.1:c.92-6646C=	XP_024308452.1:n.92-6646C=