Canonical Allele Identifier: CA351192008
Gene: COL6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336498A>G , CM000664.2:g.237336498A>G GRCh38
NC_000002.11:g.238245141A>G , CM000664.1:g.238245141A>G GRCh37
NC_000002.10:g.237909880A>G NCBI36
NG_008676.1:g.82710T>C , LRG_473:g.82710T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1247T>C
ENST00000353578.9:c.7984T>C ENSP00000315873.4:p.Ser2662Pro
ENST00000682957.1:c.729T>C
ENST00000684508.1:n.869T>C
ENST00000295550.9:c.8602T>C MANE Select ENSP00000295550.4:p.Ser2868Pro
ENST00000295550.8:c.8602T>C ENSP00000295550.4:p.Ser2868Pro
ENST00000347401.7:c.6778T>C ENSP00000315609.4:p.Ser2260Pro
ENST00000353578.8:c.7984T>C ENSP00000315873.4:p.Ser2662Pro
ENST00000409809.5:c.7984T>C ENSP00000386844.1:p.Ser2662Pro
ENST00000472056.5:c.6781T>C ENSP00000418285.1:p.Ser2261Pro
ENST00000491769.1:n.5044T>C
NM_004369.3:c.8602T>C , LRG_473t1:c.8602T>C NP_004360.2:p.Ser2868Pro
NM_057166.4:c.6781T>C NP_476507.3:p.Ser2261Pro
NM_057167.3:c.7984T>C NP_476508.2:p.Ser2662Pro
XM_005246065.1:c.8002T>C XP_005246122.1:p.Ser2668Pro
XM_005246066.1:c.7381T>C XP_005246123.1:p.Ser2461Pro
XM_006712253.1:c.8101T>C XP_006712316.1:p.Ser2701Pro
XM_011510574.1:c.8599T>C XP_011508876.1:p.Ser2867Pro
XM_011510575.1:c.6196T>C XP_011508877.1:p.Ser2066Pro
XM_017003304.1:c.6196T>C XP_016858793.1:p.Ser2066Pro
XM_024452684.1:c.7381T>C XP_024308452.1:p.Ser2461Pro
NM_004369.4:c.8602T>C MANE Select NP_004360.2:p.Ser2868Pro
NM_057166.5:c.6781T>C NP_476507.3:p.Ser2261Pro
NM_057167.4:c.7984T>C NP_476508.2:p.Ser2662Pro