Canonical Allele Identifier: CA1337620935
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237366877C= , CM000664.2:g.237366877C= GRCh38
NC_000002.11:g.238275520C= , CM000664.1:g.238275520C= GRCh37
NC_000002.10:g.237940259C= NCBI36
NG_008676.1:g.52331G= , LRG_473:g.52331G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.4692G= ENSP00000315873.4:p.Gly1564=
ENST00000295550.9:c.5310G= MANE Select ENSP00000295550.4:p.Gly1770=
ENST00000295550.8:c.5310G= ENSP00000295550.4:p.Gly1770=
ENST00000347401.7:c.3489G= ENSP00000315609.4:p.Gly1163=
ENST00000353578.8:c.4692G= ENSP00000315873.4:p.Gly1564=
ENST00000409809.5:c.4692G= ENSP00000386844.1:p.Gly1564=
ENST00000472056.5:c.3489G= ENSP00000418285.1:p.Gly1163=
NM_004369.3:c.5310G= , LRG_473t1:c.5310G= NP_004360.2:p.Gly1770=
NM_057166.4:c.3489G= NP_476507.3:p.Gly1163=
NM_057167.3:c.4692G= NP_476508.2:p.Gly1564=
XM_005246065.1:c.4710G= XP_005246122.1:p.Gly1570=
XM_005246066.1:c.4089G= XP_005246123.1:p.Gly1363=
XM_006712253.1:c.4809G= XP_006712316.1:p.Gly1603=
XM_011510574.1:c.5307G= XP_011508876.1:p.Gly1769=
XM_011510575.1:c.2904G= XP_011508877.1:p.Gly968=
XM_017003304.1:c.2904G= XP_016858793.1:p.Gly968=
XM_024452684.1:c.4089G= XP_024308452.1:p.Gly1363=
NM_004369.4:c.5310G= MANE Select NP_004360.2:p.Gly1770=
NM_057166.5:c.3489G= NP_476507.3:p.Gly1163=
NM_057167.4:c.4692G= NP_476508.2:p.Gly1564=