Canonical Allele Identifier: CA1337610871

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344428C= , CM000664.2:g.237344428C=	GRCh38
NC_000002.11:g.238253071C= , CM000664.1:g.238253071C=	GRCh37
NC_000002.10:g.237917810C=	NCBI36
NG_008676.1:g.74780G= , LRG_473:g.74780G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.235G=
ENST00000353578.9:c.6972G=	ENSP00000315873.4:p.Val2324=
ENST00000295550.9:c.7590G= MANE Select	ENSP00000295550.4:p.Val2530=
ENST00000295550.8:c.7590G=	ENSP00000295550.4:p.Val2530=
ENST00000347401.7:c.5766G=	ENSP00000315609.4:p.Val1922=
ENST00000353578.8:c.6972G=	ENSP00000315873.4:p.Val2324=
ENST00000409809.5:c.6972G=	ENSP00000386844.1:p.Val2324=
ENST00000472056.5:c.5769G=	ENSP00000418285.1:p.Val1923=
ENST00000491769.1:n.1844G=
NM_004369.3:c.7590G= , LRG_473t1:c.7590G=	NP_004360.2:p.Val2530=
NM_057166.4:c.5769G=	NP_476507.3:p.Val1923=
NM_057167.3:c.6972G=	NP_476508.2:p.Val2324=
XM_005246065.1:c.6990G=	XP_005246122.1:p.Val2330=
XM_005246066.1:c.6369G=	XP_005246123.1:p.Val2123=
XM_006712253.1:c.7089G=	XP_006712316.1:p.Val2363=
XM_011510574.1:c.7587G=	XP_011508876.1:p.Val2529=
XM_011510575.1:c.5184G=	XP_011508877.1:p.Val1728=
XM_017003304.1:c.5184G=	XP_016858793.1:p.Val1728=
XM_024452684.1:c.6369G=	XP_024308452.1:p.Val2123=
NM_004369.4:c.7590G= MANE Select	NP_004360.2:p.Val2530=
NM_057166.5:c.5769G=	NP_476507.3:p.Val1923=
NM_057167.4:c.6972G=	NP_476508.2:p.Val2324=