Canonical Allele Identifier: CA351216326

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238268028A>T (hg19) ; chr2:g.237359385A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359385A>T , CM000664.2:g.237359385A>T	GRCh38
NC_000002.11:g.238268028A>T , CM000664.1:g.238268028A>T	GRCh37
NC_000002.10:g.237932767A>T	NCBI36
NG_008676.1:g.59823T>A , LRG_473:g.59823T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.5668T>A	ENSP00000315873.4:p.Ser1890Thr
ENST00000295550.9:c.6286T>A MANE Select	ENSP00000295550.4:p.Ser2096Thr
ENST00000295550.8:c.6286T>A	ENSP00000295550.4:p.Ser2096Thr
ENST00000347401.7:c.4465T>A	ENSP00000315609.4:p.Ser1489Thr
ENST00000353578.8:c.5668T>A	ENSP00000315873.4:p.Ser1890Thr
ENST00000409809.5:c.5668T>A	ENSP00000386844.1:p.Ser1890Thr
ENST00000472056.5:c.4465T>A	ENSP00000418285.1:p.Ser1489Thr
NM_004369.3:c.6286T>A , LRG_473t1:c.6286T>A	NP_004360.2:p.Ser2096Thr
NM_057166.4:c.4465T>A	NP_476507.3:p.Ser1489Thr
NM_057167.3:c.5668T>A	NP_476508.2:p.Ser1890Thr
XM_005246065.1:c.5686T>A	XP_005246122.1:p.Ser1896Thr
XM_005246066.1:c.5065T>A	XP_005246123.1:p.Ser1689Thr
XM_006712253.1:c.5785T>A	XP_006712316.1:p.Ser1929Thr
XM_011510574.1:c.6283T>A	XP_011508876.1:p.Ser2095Thr
XM_011510575.1:c.3880T>A	XP_011508877.1:p.Ser1294Thr
XM_017003304.1:c.3880T>A	XP_016858793.1:p.Ser1294Thr
XM_024452684.1:c.5065T>A	XP_024308452.1:p.Ser1689Thr
NM_004369.4:c.6286T>A MANE Select	NP_004360.2:p.Ser2096Thr
NM_057166.5:c.4465T>A	NP_476507.3:p.Ser1489Thr
NM_057167.4:c.5668T>A	NP_476508.2:p.Ser1890Thr