Canonical Allele Identifier: CA1337607066
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336179G= , CM000664.2:g.237336179G= GRCh38
NC_000002.11:g.238244822G= , CM000664.1:g.238244822G= GRCh37
NC_000002.10:g.237909561G= NCBI36
NG_008676.1:g.83029C= , LRG_473:g.83029C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1566C=
ENST00000353578.9:c.8303C= ENSP00000315873.4:p.Ala2768=
ENST00000682957.1:c.1048C=
ENST00000684508.1:n.1188C=
ENST00000295550.9:c.8921C= MANE Select ENSP00000295550.4:p.Ala2974=
ENST00000295550.8:c.8921C= ENSP00000295550.4:p.Ala2974=
ENST00000347401.7:c.7097C= ENSP00000315609.4:p.Ala2366=
ENST00000353578.8:c.8303C= ENSP00000315873.4:p.Ala2768=
ENST00000409809.5:c.8303C= ENSP00000386844.1:p.Ala2768=
ENST00000472056.5:c.7100C= ENSP00000418285.1:p.Ala2367=
ENST00000491769.1:n.5363C=
NM_004369.3:c.8921C= , LRG_473t1:c.8921C= NP_004360.2:p.Ala2974=
NM_057166.4:c.7100C= NP_476507.3:p.Ala2367=
NM_057167.3:c.8303C= NP_476508.2:p.Ala2768=
XM_005246065.1:c.8321C= XP_005246122.1:p.Ala2774=
XM_005246066.1:c.7700C= XP_005246123.1:p.Ala2567=
XM_006712253.1:c.8420C= XP_006712316.1:p.Ala2807=
XM_011510574.1:c.8918C= XP_011508876.1:p.Ala2973=
XM_011510575.1:c.6515C= XP_011508877.1:p.Ala2172=
XM_017003304.1:c.6515C= XP_016858793.1:p.Ala2172=
XM_024452684.1:c.7700C= XP_024308452.1:p.Ala2567=
NM_004369.4:c.8921C= MANE Select NP_004360.2:p.Ala2974=
NM_057166.5:c.7100C= NP_476507.3:p.Ala2367=
NM_057167.4:c.8303C= NP_476508.2:p.Ala2768=