Canonical Allele Identifier: CA1337610896

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344476G= , CM000664.2:g.237344476G=	GRCh38
NC_000002.11:g.238253119G= , CM000664.1:g.238253119G=	GRCh37
NC_000002.10:g.237917858G=	NCBI36
NG_008676.1:g.74732C= , LRG_473:g.74732C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.187C=
ENST00000353578.9:c.6924C=	ENSP00000315873.4:p.Phe2308=
ENST00000295550.9:c.7542C= MANE Select	ENSP00000295550.4:p.Phe2514=
ENST00000295550.8:c.7542C=	ENSP00000295550.4:p.Phe2514=
ENST00000347401.7:c.5718C=	ENSP00000315609.4:p.Phe1906=
ENST00000353578.8:c.6924C=	ENSP00000315873.4:p.Phe2308=
ENST00000409809.5:c.6924C=	ENSP00000386844.1:p.Phe2308=
ENST00000472056.5:c.5721C=	ENSP00000418285.1:p.Phe1907=
ENST00000491769.1:n.1796C=
NM_004369.3:c.7542C= , LRG_473t1:c.7542C=	NP_004360.2:p.Phe2514=
NM_057166.4:c.5721C=	NP_476507.3:p.Phe1907=
NM_057167.3:c.6924C=	NP_476508.2:p.Phe2308=
XM_005246065.1:c.6942C=	XP_005246122.1:p.Phe2314=
XM_005246066.1:c.6321C=	XP_005246123.1:p.Phe2107=
XM_006712253.1:c.7041C=	XP_006712316.1:p.Phe2347=
XM_011510574.1:c.7539C=	XP_011508876.1:p.Phe2513=
XM_011510575.1:c.5136C=	XP_011508877.1:p.Phe1712=
XM_017003304.1:c.5136C=	XP_016858793.1:p.Phe1712=
XM_024452684.1:c.6321C=	XP_024308452.1:p.Phe2107=
NM_004369.4:c.7542C= MANE Select	NP_004360.2:p.Phe2514=
NM_057166.5:c.5721C=	NP_476507.3:p.Phe1907=
NM_057167.4:c.6924C=	NP_476508.2:p.Phe2308=