Canonical Allele Identifier: CA1337607162

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336365G= , CM000664.2:g.237336365G=	GRCh38
NC_000002.11:g.238245008G= , CM000664.1:g.238245008G=	GRCh37
NC_000002.10:g.237909747G=	NCBI36
NG_008676.1:g.82843C= , LRG_473:g.82843C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1380C=
ENST00000353578.9:c.8117C=	ENSP00000315873.4:p.Pro2706=
ENST00000682957.1:c.862C=
ENST00000684508.1:n.1002C=
ENST00000295550.9:c.8735C= MANE Select	ENSP00000295550.4:p.Pro2912=
ENST00000295550.8:c.8735C=	ENSP00000295550.4:p.Pro2912=
ENST00000347401.7:c.6911C=	ENSP00000315609.4:p.Pro2304=
ENST00000353578.8:c.8117C=	ENSP00000315873.4:p.Pro2706=
ENST00000409809.5:c.8117C=	ENSP00000386844.1:p.Pro2706=
ENST00000472056.5:c.6914C=	ENSP00000418285.1:p.Pro2305=
ENST00000491769.1:n.5177C=
NM_004369.3:c.8735C= , LRG_473t1:c.8735C=	NP_004360.2:p.Pro2912=
NM_057166.4:c.6914C=	NP_476507.3:p.Pro2305=
NM_057167.3:c.8117C=	NP_476508.2:p.Pro2706=
XM_005246065.1:c.8135C=	XP_005246122.1:p.Pro2712=
XM_005246066.1:c.7514C=	XP_005246123.1:p.Pro2505=
XM_006712253.1:c.8234C=	XP_006712316.1:p.Pro2745=
XM_011510574.1:c.8732C=	XP_011508876.1:p.Pro2911=
XM_011510575.1:c.6329C=	XP_011508877.1:p.Pro2110=
XM_017003304.1:c.6329C=	XP_016858793.1:p.Pro2110=
XM_024452684.1:c.7514C=	XP_024308452.1:p.Pro2505=
NM_004369.4:c.8735C= MANE Select	NP_004360.2:p.Pro2912=
NM_057166.5:c.6914C=	NP_476507.3:p.Pro2305=
NM_057167.4:c.8117C=	NP_476508.2:p.Pro2706=