Canonical Allele Identifier: CA1337607068

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336184T= , CM000664.2:g.237336184T=	GRCh38
NC_000002.11:g.238244827T= , CM000664.1:g.238244827T=	GRCh37
NC_000002.10:g.237909566T=	NCBI36
NG_008676.1:g.83024A= , LRG_473:g.83024A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1561A=
ENST00000353578.9:c.8298A=	ENSP00000315873.4:p.Pro2766=
ENST00000682957.1:c.1043A=
ENST00000684508.1:n.1183A=
ENST00000295550.9:c.8916A= MANE Select	ENSP00000295550.4:p.Pro2972=
ENST00000295550.8:c.8916A=	ENSP00000295550.4:p.Pro2972=
ENST00000347401.7:c.7092A=	ENSP00000315609.4:p.Pro2364=
ENST00000353578.8:c.8298A=	ENSP00000315873.4:p.Pro2766=
ENST00000409809.5:c.8298A=	ENSP00000386844.1:p.Pro2766=
ENST00000472056.5:c.7095A=	ENSP00000418285.1:p.Pro2365=
ENST00000491769.1:n.5358A=
NM_004369.3:c.8916A= , LRG_473t1:c.8916A=	NP_004360.2:p.Pro2972=
NM_057166.4:c.7095A=	NP_476507.3:p.Pro2365=
NM_057167.3:c.8298A=	NP_476508.2:p.Pro2766=
XM_005246065.1:c.8316A=	XP_005246122.1:p.Pro2772=
XM_005246066.1:c.7695A=	XP_005246123.1:p.Pro2565=
XM_006712253.1:c.8415A=	XP_006712316.1:p.Pro2805=
XM_011510574.1:c.8913A=	XP_011508876.1:p.Pro2971=
XM_011510575.1:c.6510A=	XP_011508877.1:p.Pro2170=
XM_017003304.1:c.6510A=	XP_016858793.1:p.Pro2170=
XM_024452684.1:c.7695A=	XP_024308452.1:p.Pro2565=
NM_004369.4:c.8916A= MANE Select	NP_004360.2:p.Pro2972=
NM_057166.5:c.7095A=	NP_476507.3:p.Pro2365=
NM_057167.4:c.8298A=	NP_476508.2:p.Pro2766=