Canonical Allele Identifier: CA1337613352

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237350169T= , CM000664.2:g.237350169T=	GRCh38
NC_000002.11:g.238258812T= , CM000664.1:g.238258812T=	GRCh37
NC_000002.10:g.237923551T=	NCBI36
NG_008676.1:g.69039A= , LRG_473:g.69039A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.6239A=	ENSP00000315873.4:p.Asn2080=
ENST00000295550.9:c.6857A= MANE Select	ENSP00000295550.4:p.Asn2286=
ENST00000295550.8:c.6857A=	ENSP00000295550.4:p.Asn2286=
ENST00000347401.7:c.5036A=	ENSP00000315609.4:p.Asn1679=
ENST00000353578.8:c.6239A=	ENSP00000315873.4:p.Asn2080=
ENST00000409809.5:c.6239A=	ENSP00000386844.1:p.Asn2080=
ENST00000472056.5:c.5036A=	ENSP00000418285.1:p.Asn1679=
ENST00000491769.1:n.1111A=
NM_004369.3:c.6857A= , LRG_473t1:c.6857A=	NP_004360.2:p.Asn2286=
NM_057166.4:c.5036A=	NP_476507.3:p.Asn1679=
NM_057167.3:c.6239A=	NP_476508.2:p.Asn2080=
XM_005246065.1:c.6257A=	XP_005246122.1:p.Asn2086=
XM_005246066.1:c.5636A=	XP_005246123.1:p.Asn1879=
XM_006712253.1:c.6356A=	XP_006712316.1:p.Asn2119=
XM_011510574.1:c.6854A=	XP_011508876.1:p.Asn2285=
XM_011510575.1:c.4451A=	XP_011508877.1:p.Asn1484=
XM_017003304.1:c.4451A=	XP_016858793.1:p.Asn1484=
XM_024452684.1:c.5636A=	XP_024308452.1:p.Asn1879=
NM_004369.4:c.6857A= MANE Select	NP_004360.2:p.Asn2286=
NM_057166.5:c.5036A=	NP_476507.3:p.Asn1679=
NM_057167.4:c.6239A=	NP_476508.2:p.Asn2080=