Canonical Allele Identifier: CA351202605
Gene: COL6A3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237344522A>G , CM000664.2:g.237344522A>G GRCh38
NC_000002.11:g.238253165A>G , CM000664.1:g.238253165A>G GRCh37
NC_000002.10:g.237917904A>G NCBI36
NG_008676.1:g.74686T>C , LRG_473:g.74686T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.141T>C
ENST00000353578.9:c.6878T>C ENSP00000315873.4:p.Phe2293Ser
ENST00000295550.9:c.7496T>C MANE Select ENSP00000295550.4:p.Phe2499Ser
ENST00000295550.8:c.7496T>C ENSP00000295550.4:p.Phe2499Ser
ENST00000347401.7:c.5672T>C ENSP00000315609.4:p.Phe1891Ser
ENST00000353578.8:c.6878T>C ENSP00000315873.4:p.Phe2293Ser
ENST00000409809.5:c.6878T>C ENSP00000386844.1:p.Phe2293Ser
ENST00000472056.5:c.5675T>C ENSP00000418285.1:p.Phe1892Ser
ENST00000491769.1:n.1750T>C
NM_004369.3:c.7496T>C , LRG_473t1:c.7496T>C NP_004360.2:p.Phe2499Ser
NM_057166.4:c.5675T>C NP_476507.3:p.Phe1892Ser
NM_057167.3:c.6878T>C NP_476508.2:p.Phe2293Ser
XM_005246065.1:c.6896T>C XP_005246122.1:p.Phe2299Ser
XM_005246066.1:c.6275T>C XP_005246123.1:p.Phe2092Ser
XM_006712253.1:c.6995T>C XP_006712316.1:p.Phe2332Ser
XM_011510574.1:c.7493T>C XP_011508876.1:p.Phe2498Ser
XM_011510575.1:c.5090T>C XP_011508877.1:p.Phe1697Ser
XM_017003304.1:c.5090T>C XP_016858793.1:p.Phe1697Ser
XM_024452684.1:c.6275T>C XP_024308452.1:p.Phe2092Ser
NM_004369.4:c.7496T>C MANE Select NP_004360.2:p.Phe2499Ser
NM_057166.5:c.5675T>C NP_476507.3:p.Phe1892Ser
NM_057167.4:c.6878T>C NP_476508.2:p.Phe2293Ser