Canonical Allele Identifier: CA1337608578

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340542C= , CM000664.2:g.237340542C=	GRCh38
NC_000002.11:g.238249185C= , CM000664.1:g.238249185C=	GRCh37
NC_000002.10:g.237913924C=	NCBI36
NG_008676.1:g.78666G= , LRG_473:g.78666G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1019G=
ENST00000353578.9:c.7756G=	ENSP00000315873.4:p.Asp2586=
ENST00000682957.1:c.377G=
ENST00000684508.1:n.641G=
ENST00000295550.9:c.8374G= MANE Select	ENSP00000295550.4:p.Asp2792=
ENST00000295550.8:c.8374G=	ENSP00000295550.4:p.Asp2792=
ENST00000347401.7:c.6550G=	ENSP00000315609.4:p.Asp2184=
ENST00000353578.8:c.7756G=	ENSP00000315873.4:p.Asp2586=
ENST00000409809.5:c.7756G=	ENSP00000386844.1:p.Asp2586=
ENST00000468792.1:n.61G=
ENST00000472056.5:c.6553G=	ENSP00000418285.1:p.Asp2185=
ENST00000491769.1:n.4816G=
NM_004369.3:c.8374G= , LRG_473t1:c.8374G=	NP_004360.2:p.Asp2792=
NM_057166.4:c.6553G=	NP_476507.3:p.Asp2185=
NM_057167.3:c.7756G=	NP_476508.2:p.Asp2586=
XM_005246065.1:c.7774G=	XP_005246122.1:p.Asp2592=
XM_005246066.1:c.7153G=	XP_005246123.1:p.Asp2385=
XM_006712253.1:c.7873G=	XP_006712316.1:p.Asp2625=
XM_011510574.1:c.8371G=	XP_011508876.1:p.Asp2791=
XM_011510575.1:c.5968G=	XP_011508877.1:p.Asp1990=
XM_017003304.1:c.5968G=	XP_016858793.1:p.Asp1990=
XM_024452684.1:c.7153G=	XP_024308452.1:p.Asp2385=
NM_004369.4:c.8374G= MANE Select	NP_004360.2:p.Asp2792=
NM_057166.5:c.6553G=	NP_476507.3:p.Asp2185=
NM_057167.4:c.7756G=	NP_476508.2:p.Asp2586=