Canonical Allele Identifier: CA351192213

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368719C>A , CM000664.2:g.237368719C>A	GRCh38
NC_000002.11:g.238277362C>A , CM000664.1:g.238277362C>A	GRCh37
NC_000002.10:g.237942101C>A	NCBI36
NG_008676.1:g.50489G>T , LRG_473:g.50489G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4744G>T MANE Select	NP_004360.2:p.Glu1582Ter
ENST00000295550.9:c.4744G>T MANE Select	ENSP00000295550.4:p.Glu1582Ter
NM_004369.3:c.4744G>T , LRG_473t1:c.4744G>T	NP_004360.2:p.Glu1582Ter
NM_057166.4:c.2923G>T	NP_476507.3:p.Glu975Ter
NM_057166.5:c.2923G>T	NP_476507.3:p.Glu975Ter
NM_057167.3:c.4126G>T	NP_476508.2:p.Glu1376Ter
NM_057167.4:c.4126G>T	NP_476508.2:p.Glu1376Ter
ENST00000295550.8:c.4744G>T	ENSP00000295550.4:p.Glu1582Ter
ENST00000347401.7:c.2923G>T	ENSP00000315609.4:p.Glu975Ter
ENST00000353578.8:c.4126G>T	ENSP00000315873.4:p.Glu1376Ter
ENST00000353578.9:c.4126G>T	ENSP00000315873.4:p.Glu1376Ter
ENST00000409809.5:c.4126G>T	ENSP00000386844.1:p.Glu1376Ter
ENST00000472056.5:c.2923G>T	ENSP00000418285.1:p.Glu975Ter
ENST00000684597.1:c.117-43G>T
XM_005246065.1:c.4144G>T	XP_005246122.1:p.Glu1382Ter
XM_005246066.1:c.3523G>T	XP_005246123.1:p.Glu1175Ter
XM_006712253.1:c.4286-43G>T	XP_006712316.1:n.4286-43G>T
XM_011510574.1:c.4741G>T	XP_011508876.1:p.Glu1581Ter
XM_011510575.1:c.2338G>T	XP_011508877.1:p.Glu780Ter
XM_017003304.1:c.2338G>T	XP_016858793.1:p.Glu780Ter
XM_024452684.1:c.3523G>T	XP_024308452.1:p.Glu1175Ter