Canonical Allele Identifier: CA351216776

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360159C>A , CM000664.2:g.237360159C>A	GRCh38
NC_000002.11:g.238268802C>A , CM000664.1:g.238268802C>A	GRCh37
NC_000002.10:g.237933541C>A	NCBI36
NG_008676.1:g.59049G>T , LRG_473:g.59049G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6211G>T MANE Select	NP_004360.2:p.Gly2071Cys
ENST00000295550.9:c.6211G>T MANE Select	ENSP00000295550.4:p.Gly2071Cys
NM_004369.3:c.6211G>T , LRG_473t1:c.6211G>T	NP_004360.2:p.Gly2071Cys
NM_057166.4:c.4390G>T	NP_476507.3:p.Gly1464Cys
NM_057166.5:c.4390G>T	NP_476507.3:p.Gly1464Cys
NM_057167.3:c.5593G>T	NP_476508.2:p.Gly1865Cys
NM_057167.4:c.5593G>T	NP_476508.2:p.Gly1865Cys
ENST00000295550.8:c.6211G>T	ENSP00000295550.4:p.Gly2071Cys
ENST00000347401.7:c.4390G>T	ENSP00000315609.4:p.Gly1464Cys
ENST00000353578.8:c.5593G>T	ENSP00000315873.4:p.Gly1865Cys
ENST00000353578.9:c.5593G>T	ENSP00000315873.4:p.Gly1865Cys
ENST00000409809.5:c.5593G>T	ENSP00000386844.1:p.Gly1865Cys
ENST00000472056.5:c.4390G>T	ENSP00000418285.1:p.Gly1464Cys
XM_005246065.1:c.5611G>T	XP_005246122.1:p.Gly1871Cys
XM_005246066.1:c.4990G>T	XP_005246123.1:p.Gly1664Cys
XM_006712253.1:c.5710G>T	XP_006712316.1:p.Gly1904Cys
XM_011510574.1:c.6208G>T	XP_011508876.1:p.Gly2070Cys
XM_011510575.1:c.3805G>T	XP_011508877.1:p.Gly1269Cys
XM_017003304.1:c.3805G>T	XP_016858793.1:p.Gly1269Cys
XM_024452684.1:c.4990G>T	XP_024308452.1:p.Gly1664Cys