Canonical Allele Identifier: CA1337606403

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334680C= , CM000664.2:g.237334680C=	GRCh38
NC_000002.11:g.238243323C= , CM000664.1:g.238243323C=	GRCh37
NC_000002.10:g.237908062C=	NCBI36
NG_008676.1:g.84528G= , LRG_473:g.84528G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1132G=
ENST00000353578.9:c.8557G=	ENSP00000315873.4:p.Val2853=
ENST00000682957.1:c.1302G=
ENST00000683348.1:c.43G=	ENSP00000508058.1:p.Val15=
ENST00000295550.9:c.9175G= MANE Select	ENSP00000295550.4:p.Val3059=
ENST00000295550.8:c.9175G=	ENSP00000295550.4:p.Val3059=
ENST00000347401.7:c.7351G=	ENSP00000315609.4:p.Val2451=
ENST00000353578.8:c.8557G=	ENSP00000315873.4:p.Val2853=
ENST00000409809.5:c.8557G=	ENSP00000386844.1:p.Val2853=
ENST00000472056.5:c.7354G=	ENSP00000418285.1:p.Val2452=
ENST00000491769.1:n.5617G=
ENST00000493608.1:n.107G=
NM_004369.3:c.9175G= , LRG_473t1:c.9175G=	NP_004360.2:p.Val3059=
NM_057166.4:c.7354G=	NP_476507.3:p.Val2452=
NM_057167.3:c.8557G=	NP_476508.2:p.Val2853=
XM_005246065.1:c.8575G=	XP_005246122.1:p.Val2859=
XM_005246066.1:c.7954G=	XP_005246123.1:p.Val2652=
XM_006712253.1:c.8674G=	XP_006712316.1:p.Val2892=
XM_011510574.1:c.9172G=	XP_011508876.1:p.Val3058=
XM_011510575.1:c.6769G=	XP_011508877.1:p.Val2257=
XM_017003304.1:c.6769G=	XP_016858793.1:p.Val2257=
XM_024452684.1:c.7954G=	XP_024308452.1:p.Val2652=
NM_004369.4:c.9175G= MANE Select	NP_004360.2:p.Val3059=
NM_057166.5:c.7354G=	NP_476507.3:p.Val2452=
NM_057167.4:c.8557G=	NP_476508.2:p.Val2853=