Canonical Allele Identifier: CA1337607211

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336456G= , CM000664.2:g.237336456G=	GRCh38
NC_000002.11:g.238245099G= , CM000664.1:g.238245099G=	GRCh37
NC_000002.10:g.237909838G=	NCBI36
NG_008676.1:g.82752C= , LRG_473:g.82752C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1289C=
ENST00000353578.9:c.8026C=	ENSP00000315873.4:p.Pro2676=
ENST00000682957.1:c.771C=
ENST00000684508.1:n.911C=
ENST00000295550.9:c.8644C= MANE Select	ENSP00000295550.4:p.Pro2882=
ENST00000295550.8:c.8644C=	ENSP00000295550.4:p.Pro2882=
ENST00000347401.7:c.6820C=	ENSP00000315609.4:p.Pro2274=
ENST00000353578.8:c.8026C=	ENSP00000315873.4:p.Pro2676=
ENST00000409809.5:c.8026C=	ENSP00000386844.1:p.Pro2676=
ENST00000472056.5:c.6823C=	ENSP00000418285.1:p.Pro2275=
ENST00000491769.1:n.5086C=
NM_004369.3:c.8644C= , LRG_473t1:c.8644C=	NP_004360.2:p.Pro2882=
NM_057166.4:c.6823C=	NP_476507.3:p.Pro2275=
NM_057167.3:c.8026C=	NP_476508.2:p.Pro2676=
XM_005246065.1:c.8044C=	XP_005246122.1:p.Pro2682=
XM_005246066.1:c.7423C=	XP_005246123.1:p.Pro2475=
XM_006712253.1:c.8143C=	XP_006712316.1:p.Pro2715=
XM_011510574.1:c.8641C=	XP_011508876.1:p.Pro2881=
XM_011510575.1:c.6238C=	XP_011508877.1:p.Pro2080=
XM_017003304.1:c.6238C=	XP_016858793.1:p.Pro2080=
XM_024452684.1:c.7423C=	XP_024308452.1:p.Pro2475=
NM_004369.4:c.8644C= MANE Select	NP_004360.2:p.Pro2882=
NM_057166.5:c.6823C=	NP_476507.3:p.Pro2275=
NM_057167.4:c.8026C=	NP_476508.2:p.Pro2676=