Canonical Allele Identifier: CA2188952

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371719G>A , CM000664.2:g.237371719G>A	GRCh38
NC_000002.11:g.238280362G>A , CM000664.1:g.238280362G>A	GRCh37
NC_000002.10:g.237945101G>A	NCBI36
NG_008676.1:g.47489C>T , LRG_473:g.47489C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4285+13C>T MANE Select	NP_004360.2:n.4285+13C>T
ENST00000295550.9:c.4285+13C>T MANE Select	ENSP00000295550.4:n.4285+13C>T
NM_004369.3:c.4285+13C>T , LRG_473t1:c.4285+13C>T	NP_004360.2:n.4285+13C>T
NM_057164.4:c.3077C>T	NP_476505.3:p.Ala1026Val
NM_057164.5:c.3077C>T	NP_476505.3:p.Ala1026Val
NM_057165.4:c.3680C>T	NP_476506.3:p.Ala1227Val
NM_057165.5:c.3680C>T	NP_476506.3:p.Ala1227Val
NM_057166.4:c.2464+13C>T	NP_476507.3:n.2464+13C>T
NM_057166.5:c.2464+13C>T	NP_476507.3:n.2464+13C>T
NM_057167.3:c.3667+13C>T	NP_476508.2:n.3667+13C>T
NM_057167.4:c.3667+13C>T	NP_476508.2:n.3667+13C>T
ENST00000295550.8:c.4285+13C>T	ENSP00000295550.4:n.4285+13C>T
ENST00000347401.7:c.2464+13C>T	ENSP00000315609.4:n.2464+13C>T
ENST00000353578.8:c.3667+13C>T	ENSP00000315873.4:n.3667+13C>T
ENST00000353578.9:c.3667+13C>T	ENSP00000315873.4:n.3667+13C>T
ENST00000392003.6:c.3077C>T	ENSP00000375860.2:p.Ala1026Val
ENST00000392004.7:c.3680C>T	ENSP00000375861.3:p.Ala1227Val
ENST00000409809.5:c.3667+13C>T	ENSP00000386844.1:n.3667+13C>T
ENST00000472056.5:c.2464+13C>T	ENSP00000418285.1:n.2464+13C>T
ENST00000684597.1:c.116+13C>T
XM_005246065.1:c.3685+13C>T	XP_005246122.1:n.3685+13C>T
XM_005246066.1:c.3064+13C>T	XP_005246123.1:n.3064+13C>T
XM_006712253.1:c.4285+13C>T	XP_006712316.1:n.4285+13C>T
XM_011510574.1:c.4285+13C>T	XP_011508876.1:n.4285+13C>T
XM_011510575.1:c.1879+13C>T	XP_011508877.1:n.1879+13C>T
XM_017003304.1:c.1879+13C>T	XP_016858793.1:n.1879+13C>T
XM_024452684.1:c.3064+13C>T	XP_024308452.1:n.3064+13C>T