Canonical Allele Identifier: CA1337607149

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336350G= , CM000664.2:g.237336350G=	GRCh38
NC_000002.11:g.238244993G= , CM000664.1:g.238244993G=	GRCh37
NC_000002.10:g.237909732G=	NCBI36
NG_008676.1:g.82858C= , LRG_473:g.82858C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1395C=
ENST00000353578.9:c.8132C=	ENSP00000315873.4:p.Pro2711=
ENST00000682957.1:c.877C=
ENST00000684508.1:n.1017C=
ENST00000295550.9:c.8750C= MANE Select	ENSP00000295550.4:p.Pro2917=
ENST00000295550.8:c.8750C=	ENSP00000295550.4:p.Pro2917=
ENST00000347401.7:c.6926C=	ENSP00000315609.4:p.Pro2309=
ENST00000353578.8:c.8132C=	ENSP00000315873.4:p.Pro2711=
ENST00000409809.5:c.8132C=	ENSP00000386844.1:p.Pro2711=
ENST00000472056.5:c.6929C=	ENSP00000418285.1:p.Pro2310=
ENST00000491769.1:n.5192C=
NM_004369.3:c.8750C= , LRG_473t1:c.8750C=	NP_004360.2:p.Pro2917=
NM_057166.4:c.6929C=	NP_476507.3:p.Pro2310=
NM_057167.3:c.8132C=	NP_476508.2:p.Pro2711=
XM_005246065.1:c.8150C=	XP_005246122.1:p.Pro2717=
XM_005246066.1:c.7529C=	XP_005246123.1:p.Pro2510=
XM_006712253.1:c.8249C=	XP_006712316.1:p.Pro2750=
XM_011510574.1:c.8747C=	XP_011508876.1:p.Pro2916=
XM_011510575.1:c.6344C=	XP_011508877.1:p.Pro2115=
XM_017003304.1:c.6344C=	XP_016858793.1:p.Pro2115=
XM_024452684.1:c.7529C=	XP_024308452.1:p.Pro2510=
NM_004369.4:c.8750C= MANE Select	NP_004360.2:p.Pro2917=
NM_057166.5:c.6929C=	NP_476507.3:p.Pro2310=
NM_057167.4:c.8132C=	NP_476508.2:p.Pro2711=