Canonical Allele Identifier: CA2187977

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237347838G>T , CM000664.2:g.237347838G>T	GRCh38
NC_000002.11:g.238256481G>T , CM000664.1:g.238256481G>T	GRCh37
NC_000002.10:g.237921220G>T	NCBI36
NG_008676.1:g.71370C>A , LRG_473:g.71370C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6998C>A MANE Select	NP_004360.2:p.Thr2333Lys
ENST00000295550.9:c.6998C>A MANE Select	ENSP00000295550.4:p.Thr2333Lys
NM_004369.3:c.6998C>A , LRG_473t1:c.6998C>A	NP_004360.2:p.Thr2333Lys
NM_057166.4:c.5177C>A	NP_476507.3:p.Thr1726Lys
NM_057166.5:c.5177C>A	NP_476507.3:p.Thr1726Lys
NM_057167.3:c.6380C>A	NP_476508.2:p.Thr2127Lys
NM_057167.4:c.6380C>A	NP_476508.2:p.Thr2127Lys
ENST00000295550.8:c.6998C>A	ENSP00000295550.4:p.Thr2333Lys
ENST00000347401.7:c.5177C>A	ENSP00000315609.4:p.Thr1726Lys
ENST00000353578.8:c.6380C>A	ENSP00000315873.4:p.Thr2127Lys
ENST00000353578.9:c.6380C>A	ENSP00000315873.4:p.Thr2127Lys
ENST00000409809.5:c.6380C>A	ENSP00000386844.1:p.Thr2127Lys
ENST00000472056.5:c.5177C>A	ENSP00000418285.1:p.Thr1726Lys
ENST00000491769.1:n.1252C>A
XM_005246065.1:c.6398C>A	XP_005246122.1:p.Thr2133Lys
XM_005246066.1:c.5777C>A	XP_005246123.1:p.Thr1926Lys
XM_006712253.1:c.6497C>A	XP_006712316.1:p.Thr2166Lys
XM_011510574.1:c.6995C>A	XP_011508876.1:p.Thr2332Lys
XM_011510575.1:c.4592C>A	XP_011508877.1:p.Thr1531Lys
XM_017003304.1:c.4592C>A	XP_016858793.1:p.Thr1531Lys
XM_024452684.1:c.5777C>A	XP_024308452.1:p.Thr1926Lys