Canonical Allele Identifier: CA215987
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 56907
dbSNP Id: rs397515332

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237361138C>T , CM000664.2:g.237361138C>T GRCh38
NC_000002.11:g.238269781C>T , CM000664.1:g.238269781C>T GRCh37
NC_000002.10:g.237934520C>T NCBI36
NG_008676.1:g.58070G>A , LRG_473:g.58070G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5575G>A ENSP00000315873.4:p.Gly1859Ser
ENST00000295550.9:c.6193G>A MANE Select ENSP00000295550.4:p.Gly2065Ser
ENST00000295550.8:c.6193G>A ENSP00000295550.4:p.Gly2065Ser
ENST00000347401.7:c.4372G>A ENSP00000315609.4:p.Gly1458Ser
ENST00000353578.8:c.5575G>A ENSP00000315873.4:p.Gly1859Ser
ENST00000409809.5:c.5575G>A ENSP00000386844.1:p.Gly1859Ser
ENST00000472056.5:c.4372G>A ENSP00000418285.1:p.Gly1458Ser
NM_004369.3:c.6193G>A , LRG_473t1:c.6193G>A NP_004360.2:p.Gly2065Ser
NM_057166.4:c.4372G>A NP_476507.3:p.Gly1458Ser
NM_057167.3:c.5575G>A NP_476508.2:p.Gly1859Ser
XM_005246065.1:c.5593G>A XP_005246122.1:p.Gly1865Ser
XM_005246066.1:c.4972G>A XP_005246123.1:p.Gly1658Ser
XM_006712253.1:c.5692G>A XP_006712316.1:p.Gly1898Ser
XM_011510574.1:c.6190G>A XP_011508876.1:p.Gly2064Ser
XM_011510575.1:c.3787G>A XP_011508877.1:p.Gly1263Ser
XM_017003304.1:c.3787G>A XP_016858793.1:p.Gly1263Ser
XM_024452684.1:c.4972G>A XP_024308452.1:p.Gly1658Ser
NM_004369.4:c.6193G>A MANE Select NP_004360.2:p.Gly2065Ser
NM_057166.5:c.4372G>A NP_476507.3:p.Gly1458Ser
NM_057167.4:c.5575G>A NP_476508.2:p.Gly1859Ser