Canonical Allele Identifier: CA2188745

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237367095T>C , CM000664.2:g.237367095T>C	GRCh38
NC_000002.11:g.238275738T>C , CM000664.1:g.238275738T>C	GRCh37
NC_000002.10:g.237940477T>C	NCBI36
NG_008676.1:g.52113A>G , LRG_473:g.52113A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5092A>G MANE Select	NP_004360.2:p.Thr1698Ala
ENST00000295550.9:c.5092A>G MANE Select	ENSP00000295550.4:p.Thr1698Ala
NM_004369.3:c.5092A>G , LRG_473t1:c.5092A>G	NP_004360.2:p.Thr1698Ala
NM_057166.4:c.3271A>G	NP_476507.3:p.Thr1091Ala
NM_057166.5:c.3271A>G	NP_476507.3:p.Thr1091Ala
NM_057167.3:c.4474A>G	NP_476508.2:p.Thr1492Ala
NM_057167.4:c.4474A>G	NP_476508.2:p.Thr1492Ala
ENST00000295550.8:c.5092A>G	ENSP00000295550.4:p.Thr1698Ala
ENST00000347401.7:c.3271A>G	ENSP00000315609.4:p.Thr1091Ala
ENST00000353578.8:c.4474A>G	ENSP00000315873.4:p.Thr1492Ala
ENST00000353578.9:c.4474A>G	ENSP00000315873.4:p.Thr1492Ala
ENST00000409809.5:c.4474A>G	ENSP00000386844.1:p.Thr1492Ala
ENST00000472056.5:c.3271A>G	ENSP00000418285.1:p.Thr1091Ala
XM_005246065.1:c.4492A>G	XP_005246122.1:p.Thr1498Ala
XM_005246066.1:c.3871A>G	XP_005246123.1:p.Thr1291Ala
XM_006712253.1:c.4591A>G	XP_006712316.1:p.Thr1531Ala
XM_011510574.1:c.5089A>G	XP_011508876.1:p.Thr1697Ala
XM_011510575.1:c.2686A>G	XP_011508877.1:p.Thr896Ala
XM_017003304.1:c.2686A>G	XP_016858793.1:p.Thr896Ala
XM_024452684.1:c.3871A>G	XP_024308452.1:p.Thr1291Ala