Canonical Allele Identifier: CA351186157

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237365931T>C , CM000664.2:g.237365931T>C	GRCh38
NC_000002.11:g.238274574T>C , CM000664.1:g.238274574T>C	GRCh37
NC_000002.10:g.237939313T>C	NCBI36
NG_008676.1:g.53277A>G , LRG_473:g.53277A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5605A>G MANE Select	NP_004360.2:p.Ile1869Val
ENST00000295550.9:c.5605A>G MANE Select	ENSP00000295550.4:p.Ile1869Val
NM_004369.3:c.5605A>G , LRG_473t1:c.5605A>G	NP_004360.2:p.Ile1869Val
NM_057166.4:c.3784A>G	NP_476507.3:p.Ile1262Val
NM_057166.5:c.3784A>G	NP_476507.3:p.Ile1262Val
NM_057167.3:c.4987A>G	NP_476508.2:p.Ile1663Val
NM_057167.4:c.4987A>G	NP_476508.2:p.Ile1663Val
ENST00000295550.8:c.5605A>G	ENSP00000295550.4:p.Ile1869Val
ENST00000347401.7:c.3784A>G	ENSP00000315609.4:p.Ile1262Val
ENST00000353578.8:c.4987A>G	ENSP00000315873.4:p.Ile1663Val
ENST00000353578.9:c.4987A>G	ENSP00000315873.4:p.Ile1663Val
ENST00000409809.5:c.4987A>G	ENSP00000386844.1:p.Ile1663Val
ENST00000472056.5:c.3784A>G	ENSP00000418285.1:p.Ile1262Val
XM_005246065.1:c.5005A>G	XP_005246122.1:p.Ile1669Val
XM_005246066.1:c.4384A>G	XP_005246123.1:p.Ile1462Val
XM_006712253.1:c.5104A>G	XP_006712316.1:p.Ile1702Val
XM_011510574.1:c.5602A>G	XP_011508876.1:p.Ile1868Val
XM_011510575.1:c.3199A>G	XP_011508877.1:p.Ile1067Val
XM_017003304.1:c.3199A>G	XP_016858793.1:p.Ile1067Val
XM_024452684.1:c.4384A>G	XP_024308452.1:p.Ile1462Val