Canonical Allele Identifier: CA2188021

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237348608C>T , CM000664.2:g.237348608C>T	GRCh38
NC_000002.11:g.238257251C>T , CM000664.1:g.238257251C>T	GRCh37
NC_000002.10:g.237921990C>T	NCBI36
NG_008676.1:g.70600G>A , LRG_473:g.70600G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6930+5G>A MANE Select	NP_004360.2:n.6930+5G>A
ENST00000295550.9:c.6930+5G>A MANE Select	ENSP00000295550.4:n.6930+5G>A
NM_004369.3:c.6930+5G>A , LRG_473t1:c.6930+5G>A	NP_004360.2:n.6930+5G>A
NM_057166.4:c.5109+5G>A	NP_476507.3:n.5109+5G>A
NM_057166.5:c.5109+5G>A	NP_476507.3:n.5109+5G>A
NM_057167.3:c.6312+5G>A	NP_476508.2:n.6312+5G>A
NM_057167.4:c.6312+5G>A	NP_476508.2:n.6312+5G>A
ENST00000295550.8:c.6930+5G>A	ENSP00000295550.4:n.6930+5G>A
ENST00000347401.7:c.5109+5G>A	ENSP00000315609.4:n.5109+5G>A
ENST00000353578.8:c.6312+5G>A	ENSP00000315873.4:n.6312+5G>A
ENST00000353578.9:c.6312+5G>A	ENSP00000315873.4:n.6312+5G>A
ENST00000409809.5:c.6312+5G>A	ENSP00000386844.1:n.6312+5G>A
ENST00000472056.5:c.5109+5G>A	ENSP00000418285.1:n.5109+5G>A
ENST00000491769.1:n.1184+5G>A
XM_005246065.1:c.6330+5G>A	XP_005246122.1:n.6330+5G>A
XM_005246066.1:c.5709+5G>A	XP_005246123.1:n.5709+5G>A
XM_006712253.1:c.6429+5G>A	XP_006712316.1:n.6429+5G>A
XM_011510574.1:c.6927+5G>A	XP_011508876.1:n.6927+5G>A
XM_011510575.1:c.4524+5G>A	XP_011508877.1:n.4524+5G>A
XM_017003304.1:c.4524+5G>A	XP_016858793.1:n.4524+5G>A
XM_024452684.1:c.5709+5G>A	XP_024308452.1:n.5709+5G>A