Canonical Allele Identifier: CA1337606475

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334821C= , CM000664.2:g.237334821C=	GRCh38
NC_000002.11:g.238243464C= , CM000664.1:g.238243464C=	GRCh37
NC_000002.10:g.237908203C=	NCBI36
NG_008676.1:g.84387G= , LRG_473:g.84387G=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9034G= MANE Select	NP_004360.2:p.Ala3012=
ENST00000295550.9:c.9034G= MANE Select	ENSP00000295550.4:p.Ala3012=
NM_004369.3:c.9034G= , LRG_473t1:c.9034G=	NP_004360.2:p.Ala3012=
NM_057166.4:c.7213G=	NP_476507.3:p.Ala2405=
NM_057166.5:c.7213G=	NP_476507.3:p.Ala2405=
NM_057167.3:c.8416G=	NP_476508.2:p.Ala2806=
NM_057167.4:c.8416G=	NP_476508.2:p.Ala2806=
ENST00000295550.8:c.9034G=	ENSP00000295550.4:p.Ala3012=
ENST00000347401.7:c.7210G=	ENSP00000315609.4:p.Ala2404=
ENST00000347401.8:c.1611-1273G=
ENST00000353578.8:c.8416G=	ENSP00000315873.4:p.Ala2806=
ENST00000353578.9:c.8416G=	ENSP00000315873.4:p.Ala2806=
ENST00000409809.5:c.8416G=	ENSP00000386844.1:p.Ala2806=
ENST00000472056.5:c.7213G=	ENSP00000418285.1:p.Ala2405=
ENST00000491769.1:n.5476G=
ENST00000682957.1:c.1161G=
XM_005246065.1:c.8434G=	XP_005246122.1:p.Ala2812=
XM_005246066.1:c.7813G=	XP_005246123.1:p.Ala2605=
XM_006712253.1:c.8533G=	XP_006712316.1:p.Ala2845=
XM_011510574.1:c.9031G=	XP_011508876.1:p.Ala3011=
XM_011510575.1:c.6628G=	XP_011508877.1:p.Ala2210=
XM_017003304.1:c.6628G=	XP_016858793.1:p.Ala2210=
XM_024452684.1:c.7813G=	XP_024308452.1:p.Ala2605=