Canonical Allele Identifier: CA1337607180

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336403A= , CM000664.2:g.237336403A=	GRCh38
NC_000002.11:g.238245046A= , CM000664.1:g.238245046A=	GRCh37
NC_000002.10:g.237909785A=	NCBI36
NG_008676.1:g.82805T= , LRG_473:g.82805T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1342T=
ENST00000353578.9:c.8079T=	ENSP00000315873.4:p.Ile2693=
ENST00000682957.1:c.824T=
ENST00000684508.1:n.964T=
ENST00000295550.9:c.8697T= MANE Select	ENSP00000295550.4:p.Ile2899=
ENST00000295550.8:c.8697T=	ENSP00000295550.4:p.Ile2899=
ENST00000347401.7:c.6873T=	ENSP00000315609.4:p.Ile2291=
ENST00000353578.8:c.8079T=	ENSP00000315873.4:p.Ile2693=
ENST00000409809.5:c.8079T=	ENSP00000386844.1:p.Ile2693=
ENST00000472056.5:c.6876T=	ENSP00000418285.1:p.Ile2292=
ENST00000491769.1:n.5139T=
NM_004369.3:c.8697T= , LRG_473t1:c.8697T=	NP_004360.2:p.Ile2899=
NM_057166.4:c.6876T=	NP_476507.3:p.Ile2292=
NM_057167.3:c.8079T=	NP_476508.2:p.Ile2693=
XM_005246065.1:c.8097T=	XP_005246122.1:p.Ile2699=
XM_005246066.1:c.7476T=	XP_005246123.1:p.Ile2492=
XM_006712253.1:c.8196T=	XP_006712316.1:p.Ile2732=
XM_011510574.1:c.8694T=	XP_011508876.1:p.Ile2898=
XM_011510575.1:c.6291T=	XP_011508877.1:p.Ile2097=
XM_017003304.1:c.6291T=	XP_016858793.1:p.Ile2097=
XM_024452684.1:c.7476T=	XP_024308452.1:p.Ile2492=
NM_004369.4:c.8697T= MANE Select	NP_004360.2:p.Ile2899=
NM_057166.5:c.6876T=	NP_476507.3:p.Ile2292=
NM_057167.4:c.8079T=	NP_476508.2:p.Ile2693=