Canonical Allele Identifier: CA1337607228

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336488A= , CM000664.2:g.237336488A=	GRCh38
NC_000002.11:g.238245131A= , CM000664.1:g.238245131A=	GRCh37
NC_000002.10:g.237909870A=	NCBI36
NG_008676.1:g.82720T= , LRG_473:g.82720T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1257T=
ENST00000353578.9:c.7994T=	ENSP00000315873.4:p.Val2665=
ENST00000682957.1:c.739T=
ENST00000684508.1:n.879T=
ENST00000295550.9:c.8612T= MANE Select	ENSP00000295550.4:p.Val2871=
ENST00000295550.8:c.8612T=	ENSP00000295550.4:p.Val2871=
ENST00000347401.7:c.6788T=	ENSP00000315609.4:p.Val2263=
ENST00000353578.8:c.7994T=	ENSP00000315873.4:p.Val2665=
ENST00000409809.5:c.7994T=	ENSP00000386844.1:p.Val2665=
ENST00000472056.5:c.6791T=	ENSP00000418285.1:p.Val2264=
ENST00000491769.1:n.5054T=
NM_004369.3:c.8612T= , LRG_473t1:c.8612T=	NP_004360.2:p.Val2871=
NM_057166.4:c.6791T=	NP_476507.3:p.Val2264=
NM_057167.3:c.7994T=	NP_476508.2:p.Val2665=
XM_005246065.1:c.8012T=	XP_005246122.1:p.Val2671=
XM_005246066.1:c.7391T=	XP_005246123.1:p.Val2464=
XM_006712253.1:c.8111T=	XP_006712316.1:p.Val2704=
XM_011510574.1:c.8609T=	XP_011508876.1:p.Val2870=
XM_011510575.1:c.6206T=	XP_011508877.1:p.Val2069=
XM_017003304.1:c.6206T=	XP_016858793.1:p.Val2069=
XM_024452684.1:c.7391T=	XP_024308452.1:p.Val2464=
NM_004369.4:c.8612T= MANE Select	NP_004360.2:p.Val2871=
NM_057166.5:c.6791T=	NP_476507.3:p.Val2264=
NM_057167.4:c.7994T=	NP_476508.2:p.Val2665=