Canonical Allele Identifier: CA1337608487

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340502T= , CM000664.2:g.237340502T=	GRCh38
NC_000002.11:g.238249145T= , CM000664.1:g.238249145T=	GRCh37
NC_000002.10:g.237913884T=	NCBI36
NG_008676.1:g.78706A= , LRG_473:g.78706A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1059A=
ENST00000353578.9:c.7796A=	ENSP00000315873.4:p.Asn2599=
ENST00000682957.1:c.417A=
ENST00000684508.1:n.681A=
ENST00000295550.9:c.8414A= MANE Select	ENSP00000295550.4:p.Asn2805=
ENST00000295550.8:c.8414A=	ENSP00000295550.4:p.Asn2805=
ENST00000347401.7:c.6590A=	ENSP00000315609.4:p.Asn2197=
ENST00000353578.8:c.7796A=	ENSP00000315873.4:p.Asn2599=
ENST00000409809.5:c.7796A=	ENSP00000386844.1:p.Asn2599=
ENST00000468792.1:n.101A=
ENST00000472056.5:c.6593A=	ENSP00000418285.1:p.Asn2198=
ENST00000491769.1:n.4856A=
NM_004369.3:c.8414A= , LRG_473t1:c.8414A=	NP_004360.2:p.Asn2805=
NM_057166.4:c.6593A=	NP_476507.3:p.Asn2198=
NM_057167.3:c.7796A=	NP_476508.2:p.Asn2599=
XM_005246065.1:c.7814A=	XP_005246122.1:p.Asn2605=
XM_005246066.1:c.7193A=	XP_005246123.1:p.Asn2398=
XM_006712253.1:c.7913A=	XP_006712316.1:p.Asn2638=
XM_011510574.1:c.8411A=	XP_011508876.1:p.Asn2804=
XM_011510575.1:c.6008A=	XP_011508877.1:p.Asn2003=
XM_017003304.1:c.6008A=	XP_016858793.1:p.Asn2003=
XM_024452684.1:c.7193A=	XP_024308452.1:p.Asn2398=
NM_004369.4:c.8414A= MANE Select	NP_004360.2:p.Asn2805=
NM_057166.5:c.6593A=	NP_476507.3:p.Asn2198=
NM_057167.4:c.7796A=	NP_476508.2:p.Asn2599=