Canonical Allele Identifier: CA2188723

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237367007C>T , CM000664.2:g.237367007C>T	GRCh38
NC_000002.11:g.238275650C>T , CM000664.1:g.238275650C>T	GRCh37
NC_000002.10:g.237940389C>T	NCBI36
NG_008676.1:g.52201G>A , LRG_473:g.52201G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5180G>A MANE Select	NP_004360.2:p.Arg1727Gln
ENST00000295550.9:c.5180G>A MANE Select	ENSP00000295550.4:p.Arg1727Gln
NM_004369.3:c.5180G>A , LRG_473t1:c.5180G>A	NP_004360.2:p.Arg1727Gln
NM_057166.4:c.3359G>A	NP_476507.3:p.Arg1120Gln
NM_057166.5:c.3359G>A	NP_476507.3:p.Arg1120Gln
NM_057167.3:c.4562G>A	NP_476508.2:p.Arg1521Gln
NM_057167.4:c.4562G>A	NP_476508.2:p.Arg1521Gln
ENST00000295550.8:c.5180G>A	ENSP00000295550.4:p.Arg1727Gln
ENST00000347401.7:c.3359G>A	ENSP00000315609.4:p.Arg1120Gln
ENST00000353578.8:c.4562G>A	ENSP00000315873.4:p.Arg1521Gln
ENST00000353578.9:c.4562G>A	ENSP00000315873.4:p.Arg1521Gln
ENST00000409809.5:c.4562G>A	ENSP00000386844.1:p.Arg1521Gln
ENST00000472056.5:c.3359G>A	ENSP00000418285.1:p.Arg1120Gln
XM_005246065.1:c.4580G>A	XP_005246122.1:p.Arg1527Gln
XM_005246066.1:c.3959G>A	XP_005246123.1:p.Arg1320Gln
XM_006712253.1:c.4679G>A	XP_006712316.1:p.Arg1560Gln
XM_011510574.1:c.5177G>A	XP_011508876.1:p.Arg1726Gln
XM_011510575.1:c.2774G>A	XP_011508877.1:p.Arg925Gln
XM_017003304.1:c.2774G>A	XP_016858793.1:p.Arg925Gln
XM_024452684.1:c.3959G>A	XP_024308452.1:p.Arg1320Gln