Canonical Allele Identifier: CA431678459

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238268770A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237360127A>T , CM000664.2:g.237360127A>T	GRCh38
NC_000002.11:g.238268770A>T , CM000664.1:g.238268770A>T	GRCh37
NC_000002.10:g.237933509A>T	NCBI36
NG_008676.1:g.59081T>A , LRG_473:g.59081T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5625T>A	ENSP00000315873.4:p.Thr1875=
ENST00000295550.9:c.6243T>A MANE Select	ENSP00000295550.4:p.Thr2081=
ENST00000295550.8:c.6243T>A	ENSP00000295550.4:p.Thr2081=
ENST00000347401.7:c.4422T>A	ENSP00000315609.4:p.Thr1474=
ENST00000353578.8:c.5625T>A	ENSP00000315873.4:p.Thr1875=
ENST00000409809.5:c.5625T>A	ENSP00000386844.1:p.Thr1875=
ENST00000472056.5:c.4422T>A	ENSP00000418285.1:p.Thr1474=
NM_004369.3:c.6243T>A , LRG_473t1:c.6243T>A	NP_004360.2:p.Thr2081=
NM_057166.4:c.4422T>A	NP_476507.3:p.Thr1474=
NM_057167.3:c.5625T>A	NP_476508.2:p.Thr1875=
XM_005246065.1:c.5643T>A	XP_005246122.1:p.Thr1881=
XM_005246066.1:c.5022T>A	XP_005246123.1:p.Thr1674=
XM_006712253.1:c.5742T>A	XP_006712316.1:p.Thr1914=
XM_011510574.1:c.6240T>A	XP_011508876.1:p.Thr2080=
XM_011510575.1:c.3837T>A	XP_011508877.1:p.Thr1279=
XM_017003304.1:c.3837T>A	XP_016858793.1:p.Thr1279=
XM_024452684.1:c.5022T>A	XP_024308452.1:p.Thr1674=
NM_004369.4:c.6243T>A MANE Select	NP_004360.2:p.Thr2081=
NM_057166.5:c.4422T>A	NP_476507.3:p.Thr1474=
NM_057167.4:c.5625T>A	NP_476508.2:p.Thr1875=