Canonical Allele Identifier: CA1337608773

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340640A= , CM000664.2:g.237340640A=	GRCh38
NC_000002.11:g.238249283A= , CM000664.1:g.238249283A=	GRCh37
NC_000002.10:g.237914022A=	NCBI36
NG_008676.1:g.78568T= , LRG_473:g.78568T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.921T=
ENST00000353578.9:c.7658T=	ENSP00000315873.4:p.Ile2553=
ENST00000682957.1:c.279T=
ENST00000684508.1:n.543T=
ENST00000295550.9:c.8276T= MANE Select	ENSP00000295550.4:p.Ile2759=
ENST00000295550.8:c.8276T=	ENSP00000295550.4:p.Ile2759=
ENST00000347401.7:c.6452T=	ENSP00000315609.4:p.Ile2151=
ENST00000353578.8:c.7658T=	ENSP00000315873.4:p.Ile2553=
ENST00000409809.5:c.7658T=	ENSP00000386844.1:p.Ile2553=
ENST00000472056.5:c.6455T=	ENSP00000418285.1:p.Ile2152=
ENST00000491769.1:n.4718T=
NM_004369.3:c.8276T= , LRG_473t1:c.8276T=	NP_004360.2:p.Ile2759=
NM_057166.4:c.6455T=	NP_476507.3:p.Ile2152=
NM_057167.3:c.7658T=	NP_476508.2:p.Ile2553=
XM_005246065.1:c.7676T=	XP_005246122.1:p.Ile2559=
XM_005246066.1:c.7055T=	XP_005246123.1:p.Ile2352=
XM_006712253.1:c.7775T=	XP_006712316.1:p.Ile2592=
XM_011510574.1:c.8273T=	XP_011508876.1:p.Ile2758=
XM_011510575.1:c.5870T=	XP_011508877.1:p.Ile1957=
XM_017003304.1:c.5870T=	XP_016858793.1:p.Ile1957=
XM_024452684.1:c.7055T=	XP_024308452.1:p.Ile2352=
NM_004369.4:c.8276T= MANE Select	NP_004360.2:p.Ile2759=
NM_057166.5:c.6455T=	NP_476507.3:p.Ile2152=
NM_057167.4:c.7658T=	NP_476508.2:p.Ile2553=