Canonical Allele Identifier: CA1337607241

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336522T= , CM000664.2:g.237336522T=	GRCh38
NC_000002.11:g.238245165T= , CM000664.1:g.238245165T=	GRCh37
NC_000002.10:g.237909904T=	NCBI36
NG_008676.1:g.82686A= , LRG_473:g.82686A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1223A=
ENST00000353578.9:c.7960A=	ENSP00000315873.4:p.Asn2654=
ENST00000682957.1:c.705A=
ENST00000684508.1:n.845A=
ENST00000295550.9:c.8578A= MANE Select	ENSP00000295550.4:p.Asn2860=
ENST00000295550.8:c.8578A=	ENSP00000295550.4:p.Asn2860=
ENST00000347401.7:c.6754A=	ENSP00000315609.4:p.Asn2252=
ENST00000353578.8:c.7960A=	ENSP00000315873.4:p.Asn2654=
ENST00000409809.5:c.7960A=	ENSP00000386844.1:p.Asn2654=
ENST00000472056.5:c.6757A=	ENSP00000418285.1:p.Asn2253=
ENST00000491769.1:n.5020A=
NM_004369.3:c.8578A= , LRG_473t1:c.8578A=	NP_004360.2:p.Asn2860=
NM_057166.4:c.6757A=	NP_476507.3:p.Asn2253=
NM_057167.3:c.7960A=	NP_476508.2:p.Asn2654=
XM_005246065.1:c.7978A=	XP_005246122.1:p.Asn2660=
XM_005246066.1:c.7357A=	XP_005246123.1:p.Asn2453=
XM_006712253.1:c.8077A=	XP_006712316.1:p.Asn2693=
XM_011510574.1:c.8575A=	XP_011508876.1:p.Asn2859=
XM_011510575.1:c.6172A=	XP_011508877.1:p.Asn2058=
XM_017003304.1:c.6172A=	XP_016858793.1:p.Asn2058=
XM_024452684.1:c.7357A=	XP_024308452.1:p.Asn2453=
NM_004369.4:c.8578A= MANE Select	NP_004360.2:p.Asn2860=
NM_057166.5:c.6757A=	NP_476507.3:p.Asn2253=
NM_057167.4:c.7960A=	NP_476508.2:p.Asn2654=