Canonical Allele Identifier: CA1337617434

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359215A= , CM000664.2:g.237359215A=	GRCh38
NC_000002.11:g.238267858A= , CM000664.1:g.238267858A=	GRCh37
NC_000002.10:g.237932597A=	NCBI36
NG_008676.1:g.59993T= , LRG_473:g.59993T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5727T=	ENSP00000315873.4:p.Asp1909=
ENST00000295550.9:c.6345T= MANE Select	ENSP00000295550.4:p.Asp2115=
ENST00000295550.8:c.6345T=	ENSP00000295550.4:p.Asp2115=
ENST00000347401.7:c.4524T=	ENSP00000315609.4:p.Asp1508=
ENST00000353578.8:c.5727T=	ENSP00000315873.4:p.Asp1909=
ENST00000409809.5:c.5727T=	ENSP00000386844.1:p.Asp1909=
ENST00000472056.5:c.4524T=	ENSP00000418285.1:p.Asp1508=
NM_004369.3:c.6345T= , LRG_473t1:c.6345T=	NP_004360.2:p.Asp2115=
NM_057166.4:c.4524T=	NP_476507.3:p.Asp1508=
NM_057167.3:c.5727T=	NP_476508.2:p.Asp1909=
XM_005246065.1:c.5745T=	XP_005246122.1:p.Asp1915=
XM_005246066.1:c.5124T=	XP_005246123.1:p.Asp1708=
XM_006712253.1:c.5844T=	XP_006712316.1:p.Asp1948=
XM_011510574.1:c.6342T=	XP_011508876.1:p.Asp2114=
XM_011510575.1:c.3939T=	XP_011508877.1:p.Asp1313=
XM_017003304.1:c.3939T=	XP_016858793.1:p.Asp1313=
XM_024452684.1:c.5124T=	XP_024308452.1:p.Asp1708=
NM_004369.4:c.6345T= MANE Select	NP_004360.2:p.Asp2115=
NM_057166.5:c.4524T=	NP_476507.3:p.Asp1508=
NM_057167.4:c.5727T=	NP_476508.2:p.Asp1909=