Canonical Allele Identifier: CA2187558

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340509C>T , CM000664.2:g.237340509C>T	GRCh38
NC_000002.11:g.238249152C>T , CM000664.1:g.238249152C>T	GRCh37
NC_000002.10:g.237913891C>T	NCBI36
NG_008676.1:g.78699G>A , LRG_473:g.78699G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8407G>A MANE Select	NP_004360.2:p.Glu2803Lys
ENST00000295550.9:c.8407G>A MANE Select	ENSP00000295550.4:p.Glu2803Lys
NM_004369.3:c.8407G>A , LRG_473t1:c.8407G>A	NP_004360.2:p.Glu2803Lys
NM_057166.4:c.6586G>A	NP_476507.3:p.Glu2196Lys
NM_057166.5:c.6586G>A	NP_476507.3:p.Glu2196Lys
NM_057167.3:c.7789G>A	NP_476508.2:p.Glu2597Lys
NM_057167.4:c.7789G>A	NP_476508.2:p.Glu2597Lys
ENST00000295550.8:c.8407G>A	ENSP00000295550.4:p.Glu2803Lys
ENST00000347401.7:c.6583G>A	ENSP00000315609.4:p.Glu2195Lys
ENST00000347401.8:c.1052G>A
ENST00000353578.8:c.7789G>A	ENSP00000315873.4:p.Glu2597Lys
ENST00000353578.9:c.7789G>A	ENSP00000315873.4:p.Glu2597Lys
ENST00000409809.5:c.7789G>A	ENSP00000386844.1:p.Glu2597Lys
ENST00000468792.1:n.94G>A
ENST00000472056.5:c.6586G>A	ENSP00000418285.1:p.Glu2196Lys
ENST00000491769.1:n.4849G>A
ENST00000682957.1:c.410G>A
ENST00000684508.1:n.674G>A
XM_005246065.1:c.7807G>A	XP_005246122.1:p.Glu2603Lys
XM_005246066.1:c.7186G>A	XP_005246123.1:p.Glu2396Lys
XM_006712253.1:c.7906G>A	XP_006712316.1:p.Glu2636Lys
XM_011510574.1:c.8404G>A	XP_011508876.1:p.Glu2802Lys
XM_011510575.1:c.6001G>A	XP_011508877.1:p.Glu2001Lys
XM_017003304.1:c.6001G>A	XP_016858793.1:p.Glu2001Lys
XM_024452684.1:c.7186G>A	XP_024308452.1:p.Glu2396Lys