Canonical Allele Identifier: CA351187917

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275602A>T (hg19) ; chr2:g.237366959A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366959A>T , CM000664.2:g.237366959A>T	GRCh38
NC_000002.11:g.238275602A>T , CM000664.1:g.238275602A>T	GRCh37
NC_000002.10:g.237940341A>T	NCBI36
NG_008676.1:g.52249T>A , LRG_473:g.52249T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4610T>A	ENSP00000315873.4:p.Val1537Asp
ENST00000295550.9:c.5228T>A MANE Select	ENSP00000295550.4:p.Val1743Asp
ENST00000295550.8:c.5228T>A	ENSP00000295550.4:p.Val1743Asp
ENST00000347401.7:c.3407T>A	ENSP00000315609.4:p.Val1136Asp
ENST00000353578.8:c.4610T>A	ENSP00000315873.4:p.Val1537Asp
ENST00000409809.5:c.4610T>A	ENSP00000386844.1:p.Val1537Asp
ENST00000472056.5:c.3407T>A	ENSP00000418285.1:p.Val1136Asp
NM_004369.3:c.5228T>A , LRG_473t1:c.5228T>A	NP_004360.2:p.Val1743Asp
NM_057166.4:c.3407T>A	NP_476507.3:p.Val1136Asp
NM_057167.3:c.4610T>A	NP_476508.2:p.Val1537Asp
XM_005246065.1:c.4628T>A	XP_005246122.1:p.Val1543Asp
XM_005246066.1:c.4007T>A	XP_005246123.1:p.Val1336Asp
XM_006712253.1:c.4727T>A	XP_006712316.1:p.Val1576Asp
XM_011510574.1:c.5225T>A	XP_011508876.1:p.Val1742Asp
XM_011510575.1:c.2822T>A	XP_011508877.1:p.Val941Asp
XM_017003304.1:c.2822T>A	XP_016858793.1:p.Val941Asp
XM_024452684.1:c.4007T>A	XP_024308452.1:p.Val1336Asp
NM_004369.4:c.5228T>A MANE Select	NP_004360.2:p.Val1743Asp
NM_057166.5:c.3407T>A	NP_476507.3:p.Val1136Asp
NM_057167.4:c.4610T>A	NP_476508.2:p.Val1537Asp