Canonical Allele Identifier: CA1337610919

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344529T= , CM000664.2:g.237344529T=	GRCh38
NC_000002.11:g.238253172T= , CM000664.1:g.238253172T=	GRCh37
NC_000002.10:g.237917911T=	NCBI36
NG_008676.1:g.74679A= , LRG_473:g.74679A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.134A=
ENST00000353578.9:c.6871A=	ENSP00000315873.4:p.Asn2291=
ENST00000295550.9:c.7489A= MANE Select	ENSP00000295550.4:p.Asn2497=
ENST00000295550.8:c.7489A=	ENSP00000295550.4:p.Asn2497=
ENST00000347401.7:c.5665A=	ENSP00000315609.4:p.Asn1889=
ENST00000353578.8:c.6871A=	ENSP00000315873.4:p.Asn2291=
ENST00000409809.5:c.6871A=	ENSP00000386844.1:p.Asn2291=
ENST00000472056.5:c.5668A=	ENSP00000418285.1:p.Asn1890=
ENST00000491769.1:n.1743A=
NM_004369.3:c.7489A= , LRG_473t1:c.7489A=	NP_004360.2:p.Asn2497=
NM_057166.4:c.5668A=	NP_476507.3:p.Asn1890=
NM_057167.3:c.6871A=	NP_476508.2:p.Asn2291=
XM_005246065.1:c.6889A=	XP_005246122.1:p.Asn2297=
XM_005246066.1:c.6268A=	XP_005246123.1:p.Asn2090=
XM_006712253.1:c.6988A=	XP_006712316.1:p.Asn2330=
XM_011510574.1:c.7486A=	XP_011508876.1:p.Asn2496=
XM_011510575.1:c.5083A=	XP_011508877.1:p.Asn1695=
XM_017003304.1:c.5083A=	XP_016858793.1:p.Asn1695=
XM_024452684.1:c.6268A=	XP_024308452.1:p.Asn2090=
NM_004369.4:c.7489A= MANE Select	NP_004360.2:p.Asn2497=
NM_057166.5:c.5668A=	NP_476507.3:p.Asn1890=
NM_057167.4:c.6871A=	NP_476508.2:p.Asn2291=