Canonical Allele Identifier: CA1337620946

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366891G= , CM000664.2:g.237366891G=	GRCh38
NC_000002.11:g.238275534G= , CM000664.1:g.238275534G=	GRCh37
NC_000002.10:g.237940273G=	NCBI36
NG_008676.1:g.52317C= , LRG_473:g.52317C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4678C=	ENSP00000315873.4:p.Leu1560=
ENST00000295550.9:c.5296C= MANE Select	ENSP00000295550.4:p.Leu1766=
ENST00000295550.8:c.5296C=	ENSP00000295550.4:p.Leu1766=
ENST00000347401.7:c.3475C=	ENSP00000315609.4:p.Leu1159=
ENST00000353578.8:c.4678C=	ENSP00000315873.4:p.Leu1560=
ENST00000409809.5:c.4678C=	ENSP00000386844.1:p.Leu1560=
ENST00000472056.5:c.3475C=	ENSP00000418285.1:p.Leu1159=
NM_004369.3:c.5296C= , LRG_473t1:c.5296C=	NP_004360.2:p.Leu1766=
NM_057166.4:c.3475C=	NP_476507.3:p.Leu1159=
NM_057167.3:c.4678C=	NP_476508.2:p.Leu1560=
XM_005246065.1:c.4696C=	XP_005246122.1:p.Leu1566=
XM_005246066.1:c.4075C=	XP_005246123.1:p.Leu1359=
XM_006712253.1:c.4795C=	XP_006712316.1:p.Leu1599=
XM_011510574.1:c.5293C=	XP_011508876.1:p.Leu1765=
XM_011510575.1:c.2890C=	XP_011508877.1:p.Leu964=
XM_017003304.1:c.2890C=	XP_016858793.1:p.Leu964=
XM_024452684.1:c.4075C=	XP_024308452.1:p.Leu1359=
NM_004369.4:c.5296C= MANE Select	NP_004360.2:p.Leu1766=
NM_057166.5:c.3475C=	NP_476507.3:p.Leu1159=
NM_057167.4:c.4678C=	NP_476508.2:p.Leu1560=