Canonical Allele Identifier: CA67860617

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237414010T>C , CM000664.2:g.237414010T>C	GRCh38
NC_000002.11:g.238322653T>C , CM000664.1:g.238322653T>C	GRCh37
NC_000002.10:g.237987392T>C	NCBI36
NG_008676.1:g.5198A>G , LRG_473:g.5198A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.-88A>G MANE Select	NP_004360.2:n.-88A>G
ENST00000295550.9:c.-88A>G MANE Select	ENSP00000295550.4:n.-88A>G
NM_004369.3:c.-88A>G , LRG_473t1:c.-88A>G	NP_004360.2:n.-88A>G
NM_057164.4:c.-88A>G	NP_476505.3:n.-88A>G
NM_057164.5:c.-88A>G	NP_476505.3:n.-88A>G
NM_057165.4:c.-88A>G	NP_476506.3:n.-88A>G
NM_057165.5:c.-88A>G	NP_476506.3:n.-88A>G
NM_057166.4:c.-88A>G	NP_476507.3:n.-88A>G
NM_057166.5:c.-88A>G	NP_476507.3:n.-88A>G
NM_057167.3:c.-88A>G	NP_476508.2:n.-88A>G
NM_057167.4:c.-88A>G	NP_476508.2:n.-88A>G
ENST00000295550.8:c.-88A>G	ENSP00000295550.4:n.-88A>G
ENST00000347401.7:c.-88A>G	ENSP00000315609.4:n.-88A>G
ENST00000353578.8:c.-88A>G	ENSP00000315873.4:n.-88A>G
ENST00000353578.9:c.-88A>G	ENSP00000315873.4:n.-88A>G
ENST00000392003.6:c.-88A>G	ENSP00000375860.2:n.-88A>G
ENST00000392004.7:c.-88A>G	ENSP00000375861.3:n.-88A>G
ENST00000433762.1:c.-88A>G	ENSP00000389539.1:n.-88A>G
ENST00000472056.5:c.-88A>G	ENSP00000418285.1:n.-88A>G
ENST00000682405.1:n.49+269A>G
ENST00000683145.1:n.220A>G
ENST00000683155.1:n.133A>G
XM_005246065.1:c.-88A>G	XP_005246122.1:n.-88A>G
XM_006712253.1:c.-88A>G	XP_006712316.1:n.-88A>G
XM_011510574.1:c.-88A>G	XP_011508876.1:n.-88A>G
XM_011510575.1:c.-88A>G	XP_011508877.1:n.-88A>G
XM_017003304.1:c.-88A>G	XP_016858793.1:n.-88A>G
XM_024452684.1:c.-88A>G	XP_024308452.1:n.-88A>G