Canonical Allele Identifier: CA431710211

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344754G>T , CM000664.2:g.237344754G>T	GRCh38
NC_000002.11:g.238253397G>T , CM000664.1:g.238253397G>T	GRCh37
NC_000002.10:g.237918136G>T	NCBI36
NG_008676.1:g.74454C>A , LRG_473:g.74454C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.7264C>A MANE Select	NP_004360.2:p.Arg2422=
ENST00000295550.9:c.7264C>A MANE Select	ENSP00000295550.4:p.Arg2422=
NM_004369.3:c.7264C>A , LRG_473t1:c.7264C>A	NP_004360.2:p.Arg2422=
NM_057166.4:c.5443C>A	NP_476507.3:p.Arg1815=
NM_057166.5:c.5443C>A	NP_476507.3:p.Arg1815=
NM_057167.3:c.6646C>A	NP_476508.2:p.Arg2216=
NM_057167.4:c.6646C>A	NP_476508.2:p.Arg2216=
ENST00000295550.8:c.7264C>A	ENSP00000295550.4:p.Arg2422=
ENST00000347401.7:c.5440C>A	ENSP00000315609.4:p.Arg1814=
ENST00000353578.8:c.6646C>A	ENSP00000315873.4:p.Arg2216=
ENST00000353578.9:c.6646C>A	ENSP00000315873.4:p.Arg2216=
ENST00000409809.5:c.6646C>A	ENSP00000386844.1:p.Arg2216=
ENST00000472056.5:c.5443C>A	ENSP00000418285.1:p.Arg1815=
ENST00000491769.1:n.1518C>A
XM_005246065.1:c.6664C>A	XP_005246122.1:p.Arg2222=
XM_005246066.1:c.6043C>A	XP_005246123.1:p.Arg2015=
XM_006712253.1:c.6763C>A	XP_006712316.1:p.Arg2255=
XM_011510574.1:c.7261C>A	XP_011508876.1:p.Arg2421=
XM_011510575.1:c.4858C>A	XP_011508877.1:p.Arg1620=
XM_017003304.1:c.4858C>A	XP_016858793.1:p.Arg1620=
XM_024452684.1:c.6043C>A	XP_024308452.1:p.Arg2015=