Canonical Allele Identifier: CA1337620914

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366843C= , CM000664.2:g.237366843C=	GRCh38
NC_000002.11:g.238275486C= , CM000664.1:g.238275486C=	GRCh37
NC_000002.10:g.237940225C=	NCBI36
NG_008676.1:g.52365G= , LRG_473:g.52365G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4726G=	ENSP00000315873.4:p.Asp1576=
ENST00000295550.9:c.5344G= MANE Select	ENSP00000295550.4:p.Asp1782=
ENST00000295550.8:c.5344G=	ENSP00000295550.4:p.Asp1782=
ENST00000347401.7:c.3523G=	ENSP00000315609.4:p.Asp1175=
ENST00000353578.8:c.4726G=	ENSP00000315873.4:p.Asp1576=
ENST00000409809.5:c.4726G=	ENSP00000386844.1:p.Asp1576=
ENST00000472056.5:c.3523G=	ENSP00000418285.1:p.Asp1175=
NM_004369.3:c.5344G= , LRG_473t1:c.5344G=	NP_004360.2:p.Asp1782=
NM_057166.4:c.3523G=	NP_476507.3:p.Asp1175=
NM_057167.3:c.4726G=	NP_476508.2:p.Asp1576=
XM_005246065.1:c.4744G=	XP_005246122.1:p.Asp1582=
XM_005246066.1:c.4123G=	XP_005246123.1:p.Asp1375=
XM_006712253.1:c.4843G=	XP_006712316.1:p.Asp1615=
XM_011510574.1:c.5341G=	XP_011508876.1:p.Asp1781=
XM_011510575.1:c.2938G=	XP_011508877.1:p.Asp980=
XM_017003304.1:c.2938G=	XP_016858793.1:p.Asp980=
XM_024452684.1:c.4123G=	XP_024308452.1:p.Asp1375=
NM_004369.4:c.5344G= MANE Select	NP_004360.2:p.Asp1782=
NM_057166.5:c.3523G=	NP_476507.3:p.Asp1175=
NM_057167.4:c.4726G=	NP_476508.2:p.Asp1576=