Canonical Allele Identifier: CA1337621075

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237367177A= , CM000664.2:g.237367177A=	GRCh38
NC_000002.11:g.238275820A= , CM000664.1:g.238275820A=	GRCh37
NC_000002.10:g.237940559A=	NCBI36
NG_008676.1:g.52031T= , LRG_473:g.52031T=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5010T= MANE Select	NP_004360.2:p.Tyr1670=
ENST00000295550.9:c.5010T= MANE Select	ENSP00000295550.4:p.Tyr1670=
NM_004369.3:c.5010T= , LRG_473t1:c.5010T=	NP_004360.2:p.Tyr1670=
NM_057166.4:c.3189T=	NP_476507.3:p.Tyr1063=
NM_057166.5:c.3189T=	NP_476507.3:p.Tyr1063=
NM_057167.3:c.4392T=	NP_476508.2:p.Tyr1464=
NM_057167.4:c.4392T=	NP_476508.2:p.Tyr1464=
ENST00000295550.8:c.5010T=	ENSP00000295550.4:p.Tyr1670=
ENST00000347401.7:c.3189T=	ENSP00000315609.4:p.Tyr1063=
ENST00000353578.8:c.4392T=	ENSP00000315873.4:p.Tyr1464=
ENST00000353578.9:c.4392T=	ENSP00000315873.4:p.Tyr1464=
ENST00000409809.5:c.4392T=	ENSP00000386844.1:p.Tyr1464=
ENST00000472056.5:c.3189T=	ENSP00000418285.1:p.Tyr1063=
ENST00000684597.1:c.340T=
XM_005246065.1:c.4410T=	XP_005246122.1:p.Tyr1470=
XM_005246066.1:c.3789T=	XP_005246123.1:p.Tyr1263=
XM_006712253.1:c.4509T=	XP_006712316.1:p.Tyr1503=
XM_011510574.1:c.5007T=	XP_011508876.1:p.Tyr1669=
XM_011510575.1:c.2604T=	XP_011508877.1:p.Tyr868=
XM_017003304.1:c.2604T=	XP_016858793.1:p.Tyr868=
XM_024452684.1:c.3789T=	XP_024308452.1:p.Tyr1263=