Canonical Allele Identifier: CA1337607227

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336485G= , CM000664.2:g.237336485G=	GRCh38
NC_000002.11:g.238245128G= , CM000664.1:g.238245128G=	GRCh37
NC_000002.10:g.237909867G=	NCBI36
NG_008676.1:g.82723C= , LRG_473:g.82723C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1260C=
ENST00000353578.9:c.7997C=	ENSP00000315873.4:p.Thr2666=
ENST00000682957.1:c.742C=
ENST00000684508.1:n.882C=
ENST00000295550.9:c.8615C= MANE Select	ENSP00000295550.4:p.Thr2872=
ENST00000295550.8:c.8615C=	ENSP00000295550.4:p.Thr2872=
ENST00000347401.7:c.6791C=	ENSP00000315609.4:p.Thr2264=
ENST00000353578.8:c.7997C=	ENSP00000315873.4:p.Thr2666=
ENST00000409809.5:c.7997C=	ENSP00000386844.1:p.Thr2666=
ENST00000472056.5:c.6794C=	ENSP00000418285.1:p.Thr2265=
ENST00000491769.1:n.5057C=
NM_004369.3:c.8615C= , LRG_473t1:c.8615C=	NP_004360.2:p.Thr2872=
NM_057166.4:c.6794C=	NP_476507.3:p.Thr2265=
NM_057167.3:c.7997C=	NP_476508.2:p.Thr2666=
XM_005246065.1:c.8015C=	XP_005246122.1:p.Thr2672=
XM_005246066.1:c.7394C=	XP_005246123.1:p.Thr2465=
XM_006712253.1:c.8114C=	XP_006712316.1:p.Thr2705=
XM_011510574.1:c.8612C=	XP_011508876.1:p.Thr2871=
XM_011510575.1:c.6209C=	XP_011508877.1:p.Thr2070=
XM_017003304.1:c.6209C=	XP_016858793.1:p.Thr2070=
XM_024452684.1:c.7394C=	XP_024308452.1:p.Thr2465=
NM_004369.4:c.8615C= MANE Select	NP_004360.2:p.Thr2872=
NM_057166.5:c.6794C=	NP_476507.3:p.Thr2265=
NM_057167.4:c.7997C=	NP_476508.2:p.Thr2666=