Canonical Allele Identifier: CA1337605871

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237333533G= , CM000664.2:g.237333533G=	GRCh38
NC_000002.11:g.238242176G= , CM000664.1:g.238242176G=	GRCh37
NC_000002.10:g.237906915G=	NCBI36
NG_008676.1:g.85675C= , LRG_473:g.85675C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.9245C= MANE Select	NP_004360.2:p.Pro3082=
ENST00000295550.9:c.9245C= MANE Select	ENSP00000295550.4:p.Pro3082=
NM_004369.3:c.9245C= , LRG_473t1:c.9245C=	NP_004360.2:p.Pro3082=
NM_057166.4:c.7424C=	NP_476507.3:p.Pro2475=
NM_057166.5:c.7424C=	NP_476507.3:p.Pro2475=
NM_057167.3:c.8627C=	NP_476508.2:p.Pro2876=
NM_057167.4:c.8627C=	NP_476508.2:p.Pro2876=
ENST00000295550.8:c.9245C=	ENSP00000295550.4:p.Pro3082=
ENST00000347401.7:c.7421C=	ENSP00000315609.4:p.Pro2474=
ENST00000347401.8:c.1626C=
ENST00000353578.8:c.8627C=	ENSP00000315873.4:p.Pro2876=
ENST00000353578.9:c.8627C=	ENSP00000315873.4:p.Pro2876=
ENST00000409809.5:c.8627C=	ENSP00000386844.1:p.Pro2876=
ENST00000472056.5:c.7424C=	ENSP00000418285.1:p.Pro2475=
ENST00000491769.1:n.5687C=
ENST00000493608.1:n.177C=
ENST00000682957.1:c.1372C=
ENST00000683348.1:c.111C=	ENSP00000508058.1:p.Pro37=
XM_005246065.1:c.8645C=	XP_005246122.1:p.Pro2882=
XM_005246066.1:c.8024C=	XP_005246123.1:p.Pro2675=
XM_006712253.1:c.8744C=	XP_006712316.1:p.Pro2915=
XM_011510574.1:c.9242C=	XP_011508876.1:p.Pro3081=
XM_011510575.1:c.6839C=	XP_011508877.1:p.Pro2280=
XM_017003304.1:c.6839C=	XP_016858793.1:p.Pro2280=
XM_024452684.1:c.8024C=	XP_024308452.1:p.Pro2675=