Canonical Allele Identifier: CA1337607164
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336371G= , CM000664.2:g.237336371G= GRCh38
NC_000002.11:g.238245014G= , CM000664.1:g.238245014G= GRCh37
NC_000002.10:g.237909753G= NCBI36
NG_008676.1:g.82837C= , LRG_473:g.82837C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1374C=
ENST00000353578.9:c.8111C= ENSP00000315873.4:p.Ala2704=
ENST00000682957.1:c.856C=
ENST00000684508.1:n.996C=
ENST00000295550.9:c.8729C= MANE Select ENSP00000295550.4:p.Ala2910=
ENST00000295550.8:c.8729C= ENSP00000295550.4:p.Ala2910=
ENST00000347401.7:c.6905C= ENSP00000315609.4:p.Ala2302=
ENST00000353578.8:c.8111C= ENSP00000315873.4:p.Ala2704=
ENST00000409809.5:c.8111C= ENSP00000386844.1:p.Ala2704=
ENST00000472056.5:c.6908C= ENSP00000418285.1:p.Ala2303=
ENST00000491769.1:n.5171C=
NM_004369.3:c.8729C= , LRG_473t1:c.8729C= NP_004360.2:p.Ala2910=
NM_057166.4:c.6908C= NP_476507.3:p.Ala2303=
NM_057167.3:c.8111C= NP_476508.2:p.Ala2704=
XM_005246065.1:c.8129C= XP_005246122.1:p.Ala2710=
XM_005246066.1:c.7508C= XP_005246123.1:p.Ala2503=
XM_006712253.1:c.8228C= XP_006712316.1:p.Ala2743=
XM_011510574.1:c.8726C= XP_011508876.1:p.Ala2909=
XM_011510575.1:c.6323C= XP_011508877.1:p.Ala2108=
XM_017003304.1:c.6323C= XP_016858793.1:p.Ala2108=
XM_024452684.1:c.7508C= XP_024308452.1:p.Ala2503=
NM_004369.4:c.8729C= MANE Select NP_004360.2:p.Ala2910=
NM_057166.5:c.6908C= NP_476507.3:p.Ala2303=
NM_057167.4:c.8111C= NP_476508.2:p.Ala2704=