Canonical Allele Identifier: CA1337621000

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237367010A= , CM000664.2:g.237367010A=	GRCh38
NC_000002.11:g.238275653A= , CM000664.1:g.238275653A=	GRCh37
NC_000002.10:g.237940392A=	NCBI36
NG_008676.1:g.52198T= , LRG_473:g.52198T=

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5177T= MANE Select	NP_004360.2:p.Leu1726=
ENST00000295550.9:c.5177T= MANE Select	ENSP00000295550.4:p.Leu1726=
NM_004369.3:c.5177T= , LRG_473t1:c.5177T=	NP_004360.2:p.Leu1726=
NM_057166.4:c.3356T=	NP_476507.3:p.Leu1119=
NM_057166.5:c.3356T=	NP_476507.3:p.Leu1119=
NM_057167.3:c.4559T=	NP_476508.2:p.Leu1520=
NM_057167.4:c.4559T=	NP_476508.2:p.Leu1520=
ENST00000295550.8:c.5177T=	ENSP00000295550.4:p.Leu1726=
ENST00000347401.7:c.3356T=	ENSP00000315609.4:p.Leu1119=
ENST00000353578.8:c.4559T=	ENSP00000315873.4:p.Leu1520=
ENST00000353578.9:c.4559T=	ENSP00000315873.4:p.Leu1520=
ENST00000409809.5:c.4559T=	ENSP00000386844.1:p.Leu1520=
ENST00000472056.5:c.3356T=	ENSP00000418285.1:p.Leu1119=
XM_005246065.1:c.4577T=	XP_005246122.1:p.Leu1526=
XM_005246066.1:c.3956T=	XP_005246123.1:p.Leu1319=
XM_006712253.1:c.4676T=	XP_006712316.1:p.Leu1559=
XM_011510574.1:c.5174T=	XP_011508876.1:p.Leu1725=
XM_011510575.1:c.2771T=	XP_011508877.1:p.Leu924=
XM_017003304.1:c.2771T=	XP_016858793.1:p.Leu924=
XM_024452684.1:c.3956T=	XP_024308452.1:p.Leu1319=