Canonical Allele Identifier: CA1337610730

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344140A= , CM000664.2:g.237344140A=	GRCh38
NC_000002.11:g.238252783A= , CM000664.1:g.238252783A=	GRCh37
NC_000002.10:g.237917522A=	NCBI36
NG_008676.1:g.75068T= , LRG_473:g.75068T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.313+210T=
ENST00000353578.9:c.7050+210T=	ENSP00000315873.4:n.7050+210T=
ENST00000295550.9:c.7668+210T= MANE Select	ENSP00000295550.4:n.7668+210T=
ENST00000295550.8:c.7668+210T=	ENSP00000295550.4:n.7668+210T=
ENST00000347401.7:c.5844+210T=	ENSP00000315609.4:n.5844+210T=
ENST00000353578.8:c.7050+210T=	ENSP00000315873.4:n.7050+210T=
ENST00000409809.5:c.7050+210T=	ENSP00000386844.1:n.7050+210T=
ENST00000472056.5:c.5847+210T=	ENSP00000418285.1:n.5847+210T=
ENST00000491769.1:n.2132T=
NM_004369.3:c.7668+210T= , LRG_473t1:c.7668+210T=	NP_004360.2:n.7668+210T=
NM_057166.4:c.5847+210T=	NP_476507.3:n.5847+210T=
NM_057167.3:c.7050+210T=	NP_476508.2:n.7050+210T=
XM_005246065.1:c.7068+210T=	XP_005246122.1:n.7068+210T=
XM_005246066.1:c.6447+210T=	XP_005246123.1:n.6447+210T=
XM_006712253.1:c.7167+210T=	XP_006712316.1:n.7167+210T=
XM_011510574.1:c.7665+210T=	XP_011508876.1:n.7665+210T=
XM_011510575.1:c.5262+210T=	XP_011508877.1:n.5262+210T=
XM_017003304.1:c.5262+210T=	XP_016858793.1:n.5262+210T=
XM_024452684.1:c.6447+210T=	XP_024308452.1:n.6447+210T=
NM_004369.4:c.7668+210T= MANE Select	NP_004360.2:n.7668+210T=
NM_057166.5:c.5847+210T=	NP_476507.3:n.5847+210T=
NM_057167.4:c.7050+210T=	NP_476508.2:n.7050+210T=