Canonical Allele Identifier: CA67845825

Gene: COL6A3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350155C>T , CM000664.2:g.237350155C>T	GRCh38
NC_000002.11:g.238258798C>T , CM000664.1:g.238258798C>T	GRCh37
NC_000002.10:g.237923537C>T	NCBI36
NG_008676.1:g.69053G>A , LRG_473:g.69053G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.6253G>A	ENSP00000315873.4:p.Gly2085Arg
ENST00000295550.9:c.6871G>A MANE Select	ENSP00000295550.4:p.Gly2291Arg
ENST00000295550.8:c.6871G>A	ENSP00000295550.4:p.Gly2291Arg
ENST00000347401.7:c.5050G>A	ENSP00000315609.4:p.Gly1684Arg
ENST00000353578.8:c.6253G>A	ENSP00000315873.4:p.Gly2085Arg
ENST00000409809.5:c.6253G>A	ENSP00000386844.1:p.Gly2085Arg
ENST00000472056.5:c.5050G>A	ENSP00000418285.1:p.Gly1684Arg
ENST00000491769.1:n.1125G>A
NM_004369.3:c.6871G>A , LRG_473t1:c.6871G>A	NP_004360.2:p.Gly2291Arg
NM_057166.4:c.5050G>A	NP_476507.3:p.Gly1684Arg
NM_057167.3:c.6253G>A	NP_476508.2:p.Gly2085Arg
XM_005246065.1:c.6271G>A	XP_005246122.1:p.Gly2091Arg
XM_005246066.1:c.5650G>A	XP_005246123.1:p.Gly1884Arg
XM_006712253.1:c.6370G>A	XP_006712316.1:p.Gly2124Arg
XM_011510574.1:c.6868G>A	XP_011508876.1:p.Gly2290Arg
XM_011510575.1:c.4465G>A	XP_011508877.1:p.Gly1489Arg
XM_017003304.1:c.4465G>A	XP_016858793.1:p.Gly1489Arg
XM_024452684.1:c.5650G>A	XP_024308452.1:p.Gly1884Arg
NM_004369.4:c.6871G>A MANE Select	NP_004360.2:p.Gly2291Arg
NM_057166.5:c.5050G>A	NP_476507.3:p.Gly1684Arg
NM_057167.4:c.6253G>A	NP_476508.2:p.Gly2085Arg