Canonical Allele Identifier: CA1337620956
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237366911G= , CM000664.2:g.237366911G= GRCh38
NC_000002.11:g.238275554G= , CM000664.1:g.238275554G= GRCh37
NC_000002.10:g.237940293G= NCBI36
NG_008676.1:g.52297C= , LRG_473:g.52297C=

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.4658C= ENSP00000315873.4:p.Ala1553=
ENST00000295550.9:c.5276C= MANE Select ENSP00000295550.4:p.Ala1759=
ENST00000295550.8:c.5276C= ENSP00000295550.4:p.Ala1759=
ENST00000347401.7:c.3455C= ENSP00000315609.4:p.Ala1152=
ENST00000353578.8:c.4658C= ENSP00000315873.4:p.Ala1553=
ENST00000409809.5:c.4658C= ENSP00000386844.1:p.Ala1553=
ENST00000472056.5:c.3455C= ENSP00000418285.1:p.Ala1152=
NM_004369.3:c.5276C= , LRG_473t1:c.5276C= NP_004360.2:p.Ala1759=
NM_057166.4:c.3455C= NP_476507.3:p.Ala1152=
NM_057167.3:c.4658C= NP_476508.2:p.Ala1553=
XM_005246065.1:c.4676C= XP_005246122.1:p.Ala1559=
XM_005246066.1:c.4055C= XP_005246123.1:p.Ala1352=
XM_006712253.1:c.4775C= XP_006712316.1:p.Ala1592=
XM_011510574.1:c.5273C= XP_011508876.1:p.Ala1758=
XM_011510575.1:c.2870C= XP_011508877.1:p.Ala957=
XM_017003304.1:c.2870C= XP_016858793.1:p.Ala957=
XM_024452684.1:c.4055C= XP_024308452.1:p.Ala1352=
NM_004369.4:c.5276C= MANE Select NP_004360.2:p.Ala1759=
NM_057166.5:c.3455C= NP_476507.3:p.Ala1152=
NM_057167.4:c.4658C= NP_476508.2:p.Ala1553=