Canonical Allele Identifier: CA1337607014

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700524664

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336052T>A , CM000664.2:g.237336052T>A	GRCh38
NC_000002.11:g.238244695T>A , CM000664.1:g.238244695T>A	GRCh37
NC_000002.10:g.237909434T>A	NCBI36
NG_008676.1:g.83156A>T , LRG_473:g.83156A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1610+83A>T
ENST00000353578.9:c.8347+83A>T	ENSP00000315873.4:n.8347+83A>T
ENST00000682957.1:c.1092+83A>T
ENST00000684508.1:n.1315A>T
ENST00000295550.9:c.8965+83A>T MANE Select	ENSP00000295550.4:n.8965+83A>T
ENST00000295550.8:c.8965+83A>T	ENSP00000295550.4:n.8965+83A>T
ENST00000347401.7:c.7141+83A>T	ENSP00000315609.4:n.7141+83A>T
ENST00000353578.8:c.8347+83A>T	ENSP00000315873.4:n.8347+83A>T
ENST00000409809.5:c.8347+83A>T	ENSP00000386844.1:n.8347+83A>T
ENST00000472056.5:c.7144+83A>T	ENSP00000418285.1:n.7144+83A>T
ENST00000491769.1:n.5407+83A>T
NM_004369.3:c.8965+83A>T , LRG_473t1:c.8965+83A>T	NP_004360.2:n.8965+83A>T
NM_057166.4:c.7144+83A>T	NP_476507.3:n.7144+83A>T
NM_057167.3:c.8347+83A>T	NP_476508.2:n.8347+83A>T
XM_005246065.1:c.8365+83A>T	XP_005246122.1:n.8365+83A>T
XM_005246066.1:c.7744+83A>T	XP_005246123.1:n.7744+83A>T
XM_006712253.1:c.8464+83A>T	XP_006712316.1:n.8464+83A>T
XM_011510574.1:c.8962+83A>T	XP_011508876.1:n.8962+83A>T
XM_011510575.1:c.6559+83A>T	XP_011508877.1:n.6559+83A>T
XM_017003304.1:c.6559+83A>T	XP_016858793.1:n.6559+83A>T
XM_024452684.1:c.7744+83A>T	XP_024308452.1:n.7744+83A>T
NM_004369.4:c.8965+83A>T MANE Select	NP_004360.2:n.8965+83A>T
NM_057166.5:c.7144+83A>T	NP_476507.3:n.7144+83A>T
NM_057167.4:c.8347+83A>T	NP_476508.2:n.8347+83A>T