Canonical Allele Identifier: CA1337610898

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344479A= , CM000664.2:g.237344479A=	GRCh38
NC_000002.11:g.238253122A= , CM000664.1:g.238253122A=	GRCh37
NC_000002.10:g.237917861A=	NCBI36
NG_008676.1:g.74729T= , LRG_473:g.74729T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.184T=
ENST00000353578.9:c.6921T=	ENSP00000315873.4:p.Val2307=
ENST00000295550.9:c.7539T= MANE Select	ENSP00000295550.4:p.Val2513=
ENST00000295550.8:c.7539T=	ENSP00000295550.4:p.Val2513=
ENST00000347401.7:c.5715T=	ENSP00000315609.4:p.Val1905=
ENST00000353578.8:c.6921T=	ENSP00000315873.4:p.Val2307=
ENST00000409809.5:c.6921T=	ENSP00000386844.1:p.Val2307=
ENST00000472056.5:c.5718T=	ENSP00000418285.1:p.Val1906=
ENST00000491769.1:n.1793T=
NM_004369.3:c.7539T= , LRG_473t1:c.7539T=	NP_004360.2:p.Val2513=
NM_057166.4:c.5718T=	NP_476507.3:p.Val1906=
NM_057167.3:c.6921T=	NP_476508.2:p.Val2307=
XM_005246065.1:c.6939T=	XP_005246122.1:p.Val2313=
XM_005246066.1:c.6318T=	XP_005246123.1:p.Val2106=
XM_006712253.1:c.7038T=	XP_006712316.1:p.Val2346=
XM_011510574.1:c.7536T=	XP_011508876.1:p.Val2512=
XM_011510575.1:c.5133T=	XP_011508877.1:p.Val1711=
XM_017003304.1:c.5133T=	XP_016858793.1:p.Val1711=
XM_024452684.1:c.6318T=	XP_024308452.1:p.Val2106=
NM_004369.4:c.7539T= MANE Select	NP_004360.2:p.Val2513=
NM_057166.5:c.5718T=	NP_476507.3:p.Val1906=
NM_057167.4:c.6921T=	NP_476508.2:p.Val2307=