Canonical Allele Identifier: CA1337607145

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336341G= , CM000664.2:g.237336341G=	GRCh38
NC_000002.11:g.238244984G= , CM000664.1:g.238244984G=	GRCh37
NC_000002.10:g.237909723G=	NCBI36
NG_008676.1:g.82867C= , LRG_473:g.82867C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1404C=
ENST00000353578.9:c.8141C=	ENSP00000315873.4:p.Ala2714=
ENST00000682957.1:c.886C=
ENST00000684508.1:n.1026C=
ENST00000295550.9:c.8759C= MANE Select	ENSP00000295550.4:p.Ala2920=
ENST00000295550.8:c.8759C=	ENSP00000295550.4:p.Ala2920=
ENST00000347401.7:c.6935C=	ENSP00000315609.4:p.Ala2312=
ENST00000353578.8:c.8141C=	ENSP00000315873.4:p.Ala2714=
ENST00000409809.5:c.8141C=	ENSP00000386844.1:p.Ala2714=
ENST00000472056.5:c.6938C=	ENSP00000418285.1:p.Ala2313=
ENST00000491769.1:n.5201C=
NM_004369.3:c.8759C= , LRG_473t1:c.8759C=	NP_004360.2:p.Ala2920=
NM_057166.4:c.6938C=	NP_476507.3:p.Ala2313=
NM_057167.3:c.8141C=	NP_476508.2:p.Ala2714=
XM_005246065.1:c.8159C=	XP_005246122.1:p.Ala2720=
XM_005246066.1:c.7538C=	XP_005246123.1:p.Ala2513=
XM_006712253.1:c.8258C=	XP_006712316.1:p.Ala2753=
XM_011510574.1:c.8756C=	XP_011508876.1:p.Ala2919=
XM_011510575.1:c.6353C=	XP_011508877.1:p.Ala2118=
XM_017003304.1:c.6353C=	XP_016858793.1:p.Ala2118=
XM_024452684.1:c.7538C=	XP_024308452.1:p.Ala2513=
NM_004369.4:c.8759C= MANE Select	NP_004360.2:p.Ala2920=
NM_057166.5:c.6938C=	NP_476507.3:p.Ala2313=
NM_057167.4:c.8141C=	NP_476508.2:p.Ala2714=