Canonical Allele Identifier: CA2187385

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334855T>C , CM000664.2:g.237334855T>C	GRCh38
NC_000002.11:g.238243498T>C , CM000664.1:g.238243498T>C	GRCh37
NC_000002.10:g.237908237T>C	NCBI36
NG_008676.1:g.84353A>G , LRG_473:g.84353A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9000A>G MANE Select	NP_004360.2:p.Ile3000Met
ENST00000295550.9:c.9000A>G MANE Select	ENSP00000295550.4:p.Ile3000Met
NM_004369.3:c.9000A>G , LRG_473t1:c.9000A>G	NP_004360.2:p.Ile3000Met
NM_057166.4:c.7179A>G	NP_476507.3:p.Ile2393Met
NM_057166.5:c.7179A>G	NP_476507.3:p.Ile2393Met
NM_057167.3:c.8382A>G	NP_476508.2:p.Ile2794Met
NM_057167.4:c.8382A>G	NP_476508.2:p.Ile2794Met
ENST00000295550.8:c.9000A>G	ENSP00000295550.4:p.Ile3000Met
ENST00000347401.7:c.7176A>G	ENSP00000315609.4:p.Ile2392Met
ENST00000347401.8:c.1610+1280A>G
ENST00000353578.8:c.8382A>G	ENSP00000315873.4:p.Ile2794Met
ENST00000353578.9:c.8382A>G	ENSP00000315873.4:p.Ile2794Met
ENST00000409809.5:c.8382A>G	ENSP00000386844.1:p.Ile2794Met
ENST00000472056.5:c.7179A>G	ENSP00000418285.1:p.Ile2393Met
ENST00000491769.1:n.5442A>G
ENST00000682957.1:c.1127A>G
XM_005246065.1:c.8400A>G	XP_005246122.1:p.Ile2800Met
XM_005246066.1:c.7779A>G	XP_005246123.1:p.Ile2593Met
XM_006712253.1:c.8499A>G	XP_006712316.1:p.Ile2833Met
XM_011510574.1:c.8997A>G	XP_011508876.1:p.Ile2999Met
XM_011510575.1:c.6594A>G	XP_011508877.1:p.Ile2198Met
XM_017003304.1:c.6594A>G	XP_016858793.1:p.Ile2198Met
XM_024452684.1:c.7779A>G	XP_024308452.1:p.Ile2593Met