Canonical Allele Identifier: CA2187634

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340841T>C , CM000664.2:g.237340841T>C	GRCh38
NC_000002.11:g.238249484T>C , CM000664.1:g.238249484T>C	GRCh37
NC_000002.10:g.237914223T>C	NCBI36
NG_008676.1:g.78367A>G , LRG_473:g.78367A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.8075A>G MANE Select	NP_004360.2:p.Tyr2692Cys
ENST00000295550.9:c.8075A>G MANE Select	ENSP00000295550.4:p.Tyr2692Cys
NM_004369.3:c.8075A>G , LRG_473t1:c.8075A>G	NP_004360.2:p.Tyr2692Cys
NM_057166.4:c.6254A>G	NP_476507.3:p.Tyr2085Cys
NM_057166.5:c.6254A>G	NP_476507.3:p.Tyr2085Cys
NM_057167.3:c.7457A>G	NP_476508.2:p.Tyr2486Cys
NM_057167.4:c.7457A>G	NP_476508.2:p.Tyr2486Cys
ENST00000295550.8:c.8075A>G	ENSP00000295550.4:p.Tyr2692Cys
ENST00000347401.7:c.6251A>G	ENSP00000315609.4:p.Tyr2084Cys
ENST00000347401.8:c.720A>G
ENST00000353578.8:c.7457A>G	ENSP00000315873.4:p.Tyr2486Cys
ENST00000353578.9:c.7457A>G	ENSP00000315873.4:p.Tyr2486Cys
ENST00000409809.5:c.7457A>G	ENSP00000386844.1:p.Tyr2486Cys
ENST00000472056.5:c.6254A>G	ENSP00000418285.1:p.Tyr2085Cys
ENST00000491769.1:n.4517A>G
ENST00000682957.1:c.78A>G
ENST00000684508.1:n.342A>G
XM_005246065.1:c.7475A>G	XP_005246122.1:p.Tyr2492Cys
XM_005246066.1:c.6854A>G	XP_005246123.1:p.Tyr2285Cys
XM_006712253.1:c.7574A>G	XP_006712316.1:p.Tyr2525Cys
XM_011510574.1:c.8072A>G	XP_011508876.1:p.Tyr2691Cys
XM_011510575.1:c.5669A>G	XP_011508877.1:p.Tyr1890Cys
XM_017003304.1:c.5669A>G	XP_016858793.1:p.Tyr1890Cys
XM_024452684.1:c.6854A>G	XP_024308452.1:p.Tyr2285Cys