Canonical Allele Identifier: CA1337607132

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336314G= , CM000664.2:g.237336314G=	GRCh38
NC_000002.11:g.238244957G= , CM000664.1:g.238244957G=	GRCh37
NC_000002.10:g.237909696G=	NCBI36
NG_008676.1:g.82894C= , LRG_473:g.82894C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1431C=
ENST00000353578.9:c.8168C=	ENSP00000315873.4:p.Thr2723=
ENST00000682957.1:c.913C=
ENST00000684508.1:n.1053C=
ENST00000295550.9:c.8786C= MANE Select	ENSP00000295550.4:p.Thr2929=
ENST00000295550.8:c.8786C=	ENSP00000295550.4:p.Thr2929=
ENST00000347401.7:c.6962C=	ENSP00000315609.4:p.Thr2321=
ENST00000353578.8:c.8168C=	ENSP00000315873.4:p.Thr2723=
ENST00000409809.5:c.8168C=	ENSP00000386844.1:p.Thr2723=
ENST00000472056.5:c.6965C=	ENSP00000418285.1:p.Thr2322=
ENST00000491769.1:n.5228C=
NM_004369.3:c.8786C= , LRG_473t1:c.8786C=	NP_004360.2:p.Thr2929=
NM_057166.4:c.6965C=	NP_476507.3:p.Thr2322=
NM_057167.3:c.8168C=	NP_476508.2:p.Thr2723=
XM_005246065.1:c.8186C=	XP_005246122.1:p.Thr2729=
XM_005246066.1:c.7565C=	XP_005246123.1:p.Thr2522=
XM_006712253.1:c.8285C=	XP_006712316.1:p.Thr2762=
XM_011510574.1:c.8783C=	XP_011508876.1:p.Thr2928=
XM_011510575.1:c.6380C=	XP_011508877.1:p.Thr2127=
XM_017003304.1:c.6380C=	XP_016858793.1:p.Thr2127=
XM_024452684.1:c.7565C=	XP_024308452.1:p.Thr2522=
NM_004369.4:c.8786C= MANE Select	NP_004360.2:p.Thr2929=
NM_057166.5:c.6965C=	NP_476507.3:p.Thr2322=
NM_057167.4:c.8168C=	NP_476508.2:p.Thr2723=