Canonical Allele Identifier: CA148104

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325642A>G , CM000664.2:g.237325642A>G	GRCh38
NC_000002.11:g.238234285A>G , CM000664.1:g.238234285A>G	GRCh37
NC_000002.10:g.237899024A>G	NCBI36
NG_008676.1:g.93566T>C , LRG_473:g.93566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1792T>C
ENST00000353578.9:c.8793T>C	ENSP00000315873.4:p.Cys2931=
ENST00000682957.1:c.1538T>C
ENST00000683348.1:c.277T>C	ENSP00000508058.1:n.277T>C
ENST00000295550.9:c.9411T>C MANE Select	ENSP00000295550.4:p.Cys3137=
ENST00000295550.8:c.9411T>C	ENSP00000295550.4:p.Cys3137=
ENST00000347401.7:c.7587T>C	ENSP00000315609.4:p.Cys2529=
ENST00000353578.8:c.8793T>C	ENSP00000315873.4:p.Cys2931=
ENST00000409809.5:c.8793T>C	ENSP00000386844.1:p.Cys2931=
ENST00000472056.5:c.7590T>C	ENSP00000418285.1:p.Cys2530=
ENST00000473258.1:n.4539T>C
ENST00000491769.1:n.5853T>C
NM_004369.3:c.9411T>C , LRG_473t1:c.9411T>C	NP_004360.2:p.Cys3137=
NM_057166.4:c.7590T>C	NP_476507.3:p.Cys2530=
NM_057167.3:c.8793T>C	NP_476508.2:p.Cys2931=
XM_005246065.1:c.8811T>C	XP_005246122.1:p.Cys2937=
XM_005246066.1:c.8190T>C	XP_005246123.1:p.Cys2730=
XM_006712253.1:c.8910T>C	XP_006712316.1:p.Cys2970=
XM_011510574.1:c.9408T>C	XP_011508876.1:p.Cys3136=
XM_011510575.1:c.7005T>C	XP_011508877.1:p.Cys2335=
XM_017003304.1:c.7005T>C	XP_016858793.1:p.Cys2335=
XM_024452684.1:c.8190T>C	XP_024308452.1:p.Cys2730=
NM_004369.4:c.9411T>C MANE Select	NP_004360.2:p.Cys3137=
NM_057166.5:c.7590T>C	NP_476507.3:p.Cys2530=
NM_057167.4:c.8793T>C	NP_476508.2:p.Cys2931=