Canonical Allele Identifier: CA67816216

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368698C>T , CM000664.2:g.237368698C>T	GRCh38
NC_000002.11:g.238277341C>T , CM000664.1:g.238277341C>T	GRCh37
NC_000002.10:g.237942080C>T	NCBI36
NG_008676.1:g.50510G>A , LRG_473:g.50510G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4765G>A MANE Select	NP_004360.2:p.Asp1589Asn
ENST00000295550.9:c.4765G>A MANE Select	ENSP00000295550.4:p.Asp1589Asn
NM_004369.3:c.4765G>A , LRG_473t1:c.4765G>A	NP_004360.2:p.Asp1589Asn
NM_057166.4:c.2944G>A	NP_476507.3:p.Asp982Asn
NM_057166.5:c.2944G>A	NP_476507.3:p.Asp982Asn
NM_057167.3:c.4147G>A	NP_476508.2:p.Asp1383Asn
NM_057167.4:c.4147G>A	NP_476508.2:p.Asp1383Asn
ENST00000295550.8:c.4765G>A	ENSP00000295550.4:p.Asp1589Asn
ENST00000347401.7:c.2944G>A	ENSP00000315609.4:p.Asp982Asn
ENST00000353578.8:c.4147G>A	ENSP00000315873.4:p.Asp1383Asn
ENST00000353578.9:c.4147G>A	ENSP00000315873.4:p.Asp1383Asn
ENST00000409809.5:c.4147G>A	ENSP00000386844.1:p.Asp1383Asn
ENST00000472056.5:c.2944G>A	ENSP00000418285.1:p.Asp982Asn
ENST00000684597.1:c.117-22G>A
XM_005246065.1:c.4165G>A	XP_005246122.1:p.Asp1389Asn
XM_005246066.1:c.3544G>A	XP_005246123.1:p.Asp1182Asn
XM_006712253.1:c.4286-22G>A	XP_006712316.1:n.4286-22G>A
XM_011510574.1:c.4762G>A	XP_011508876.1:p.Asp1588Asn
XM_011510575.1:c.2359G>A	XP_011508877.1:p.Asp787Asn
XM_017003304.1:c.2359G>A	XP_016858793.1:p.Asp787Asn
XM_024452684.1:c.3544G>A	XP_024308452.1:p.Asp1182Asn