Canonical Allele Identifier: CA205930
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237361150G>A , CM000664.2:g.237361150G>A GRCh38
NC_000002.11:g.238269793G>A , CM000664.1:g.238269793G>A GRCh37
NC_000002.10:g.237934532G>A NCBI36
NG_008676.1:g.58058C>T , LRG_473:g.58058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000353578.9:c.5563C>T ENSP00000315873.4:p.Arg1855Ter
ENST00000295550.9:c.6181C>T MANE Select ENSP00000295550.4:p.Arg2061Ter
ENST00000295550.8:c.6181C>T ENSP00000295550.4:p.Arg2061Ter
ENST00000347401.7:c.4360C>T ENSP00000315609.4:p.Arg1454Ter
ENST00000353578.8:c.5563C>T ENSP00000315873.4:p.Arg1855Ter
ENST00000409809.5:c.5563C>T ENSP00000386844.1:p.Arg1855Ter
ENST00000472056.5:c.4360C>T ENSP00000418285.1:p.Arg1454Ter
NM_004369.3:c.6181C>T , LRG_473t1:c.6181C>T NP_004360.2:p.Arg2061Ter
NM_057166.4:c.4360C>T NP_476507.3:p.Arg1454Ter
NM_057167.3:c.5563C>T NP_476508.2:p.Arg1855Ter
XM_005246065.1:c.5581C>T XP_005246122.1:p.Arg1861Ter
XM_005246066.1:c.4960C>T XP_005246123.1:p.Arg1654Ter
XM_006712253.1:c.5680C>T XP_006712316.1:p.Arg1894Ter
XM_011510574.1:c.6178C>T XP_011508876.1:p.Arg2060Ter
XM_011510575.1:c.3775C>T XP_011508877.1:p.Arg1259Ter
XM_017003304.1:c.3775C>T XP_016858793.1:p.Arg1259Ter
XM_024452684.1:c.4960C>T XP_024308452.1:p.Arg1654Ter
NM_004369.4:c.6181C>T MANE Select NP_004360.2:p.Arg2061Ter
NM_057166.5:c.4360C>T NP_476507.3:p.Arg1454Ter
NM_057167.4:c.5563C>T NP_476508.2:p.Arg1855Ter