Canonical Allele Identifier: CA1337607048

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336140G= , CM000664.2:g.237336140G=	GRCh38
NC_000002.11:g.238244783G= , CM000664.1:g.238244783G=	GRCh37
NC_000002.10:g.237909522G=	NCBI36
NG_008676.1:g.83068C= , LRG_473:g.83068C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1605C=
ENST00000353578.9:c.8342C=	ENSP00000315873.4:p.Pro2781=
ENST00000682957.1:c.1087C=
ENST00000684508.1:n.1227C=
ENST00000295550.9:c.8960C= MANE Select	ENSP00000295550.4:p.Pro2987=
ENST00000295550.8:c.8960C=	ENSP00000295550.4:p.Pro2987=
ENST00000347401.7:c.7136C=	ENSP00000315609.4:p.Pro2379=
ENST00000353578.8:c.8342C=	ENSP00000315873.4:p.Pro2781=
ENST00000409809.5:c.8342C=	ENSP00000386844.1:p.Pro2781=
ENST00000472056.5:c.7139C=	ENSP00000418285.1:p.Pro2380=
ENST00000491769.1:n.5402C=
NM_004369.3:c.8960C= , LRG_473t1:c.8960C=	NP_004360.2:p.Pro2987=
NM_057166.4:c.7139C=	NP_476507.3:p.Pro2380=
NM_057167.3:c.8342C=	NP_476508.2:p.Pro2781=
XM_005246065.1:c.8360C=	XP_005246122.1:p.Pro2787=
XM_005246066.1:c.7739C=	XP_005246123.1:p.Pro2580=
XM_006712253.1:c.8459C=	XP_006712316.1:p.Pro2820=
XM_011510574.1:c.8957C=	XP_011508876.1:p.Pro2986=
XM_011510575.1:c.6554C=	XP_011508877.1:p.Pro2185=
XM_017003304.1:c.6554C=	XP_016858793.1:p.Pro2185=
XM_024452684.1:c.7739C=	XP_024308452.1:p.Pro2580=
NM_004369.4:c.8960C= MANE Select	NP_004360.2:p.Pro2987=
NM_057166.5:c.7139C=	NP_476507.3:p.Pro2380=
NM_057167.4:c.8342C=	NP_476508.2:p.Pro2781=