Canonical Allele Identifier: CA1337618613

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361132C= , CM000664.2:g.237361132C=	GRCh38
NC_000002.11:g.238269775C= , CM000664.1:g.238269775C=	GRCh37
NC_000002.10:g.237934514C=	NCBI36
NG_008676.1:g.58076G= , LRG_473:g.58076G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6199G= MANE Select	NP_004360.2:p.Glu2067=
ENST00000295550.9:c.6199G= MANE Select	ENSP00000295550.4:p.Glu2067=
NM_004369.3:c.6199G= , LRG_473t1:c.6199G=	NP_004360.2:p.Glu2067=
NM_057166.4:c.4378G=	NP_476507.3:p.Glu1460=
NM_057166.5:c.4378G=	NP_476507.3:p.Glu1460=
NM_057167.3:c.5581G=	NP_476508.2:p.Glu1861=
NM_057167.4:c.5581G=	NP_476508.2:p.Glu1861=
ENST00000295550.8:c.6199G=	ENSP00000295550.4:p.Glu2067=
ENST00000347401.7:c.4378G=	ENSP00000315609.4:p.Glu1460=
ENST00000353578.8:c.5581G=	ENSP00000315873.4:p.Glu1861=
ENST00000353578.9:c.5581G=	ENSP00000315873.4:p.Glu1861=
ENST00000409809.5:c.5581G=	ENSP00000386844.1:p.Glu1861=
ENST00000472056.5:c.4378G=	ENSP00000418285.1:p.Glu1460=
XM_005246065.1:c.5599G=	XP_005246122.1:p.Glu1867=
XM_005246066.1:c.4978G=	XP_005246123.1:p.Glu1660=
XM_006712253.1:c.5698G=	XP_006712316.1:p.Glu1900=
XM_011510574.1:c.6196G=	XP_011508876.1:p.Glu2066=
XM_011510575.1:c.3793G=	XP_011508877.1:p.Glu1265=
XM_017003304.1:c.3793G=	XP_016858793.1:p.Glu1265=
XM_024452684.1:c.4978G=	XP_024308452.1:p.Glu1660=