Canonical Allele Identifier: CA1337607233

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336504G= , CM000664.2:g.237336504G=	GRCh38
NC_000002.11:g.238245147G= , CM000664.1:g.238245147G=	GRCh37
NC_000002.10:g.237909886G=	NCBI36
NG_008676.1:g.82704C= , LRG_473:g.82704C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1241C=
ENST00000353578.9:c.7978C=	ENSP00000315873.4:p.Pro2660=
ENST00000682957.1:c.723C=
ENST00000684508.1:n.863C=
ENST00000295550.9:c.8596C= MANE Select	ENSP00000295550.4:p.Pro2866=
ENST00000295550.8:c.8596C=	ENSP00000295550.4:p.Pro2866=
ENST00000347401.7:c.6772C=	ENSP00000315609.4:p.Pro2258=
ENST00000353578.8:c.7978C=	ENSP00000315873.4:p.Pro2660=
ENST00000409809.5:c.7978C=	ENSP00000386844.1:p.Pro2660=
ENST00000472056.5:c.6775C=	ENSP00000418285.1:p.Pro2259=
ENST00000491769.1:n.5038C=
NM_004369.3:c.8596C= , LRG_473t1:c.8596C=	NP_004360.2:p.Pro2866=
NM_057166.4:c.6775C=	NP_476507.3:p.Pro2259=
NM_057167.3:c.7978C=	NP_476508.2:p.Pro2660=
XM_005246065.1:c.7996C=	XP_005246122.1:p.Pro2666=
XM_005246066.1:c.7375C=	XP_005246123.1:p.Pro2459=
XM_006712253.1:c.8095C=	XP_006712316.1:p.Pro2699=
XM_011510574.1:c.8593C=	XP_011508876.1:p.Pro2865=
XM_011510575.1:c.6190C=	XP_011508877.1:p.Pro2064=
XM_017003304.1:c.6190C=	XP_016858793.1:p.Pro2064=
XM_024452684.1:c.7375C=	XP_024308452.1:p.Pro2459=
NM_004369.4:c.8596C= MANE Select	NP_004360.2:p.Pro2866=
NM_057166.5:c.6775C=	NP_476507.3:p.Pro2259=
NM_057167.4:c.7978C=	NP_476508.2:p.Pro2660=