Canonical Allele Identifier: CA2188926

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237369179T>G , CM000664.2:g.237369179T>G	GRCh38
NC_000002.11:g.238277822T>G , CM000664.1:g.238277822T>G	GRCh37
NC_000002.10:g.237942561T>G	NCBI36
NG_008676.1:g.50029A>C , LRG_473:g.50029A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.4286-2A>C MANE Select	NP_004360.2:n.4286-2A>C
ENST00000295550.9:c.4286-2A>C MANE Select	ENSP00000295550.4:n.4286-2A>C
NM_004369.3:c.4286-2A>C , LRG_473t1:c.4286-2A>C	NP_004360.2:n.4286-2A>C
NM_057166.4:c.2465-2A>C	NP_476507.3:n.2465-2A>C
NM_057166.5:c.2465-2A>C	NP_476507.3:n.2465-2A>C
NM_057167.3:c.3668-2A>C	NP_476508.2:n.3668-2A>C
NM_057167.4:c.3668-2A>C	NP_476508.2:n.3668-2A>C
ENST00000295550.8:c.4286-2A>C	ENSP00000295550.4:n.4286-2A>C
ENST00000347401.7:c.2465-2A>C	ENSP00000315609.4:n.2465-2A>C
ENST00000353578.8:c.3668-2A>C	ENSP00000315873.4:n.3668-2A>C
ENST00000353578.9:c.3668-2A>C	ENSP00000315873.4:n.3668-2A>C
ENST00000409809.5:c.3668-2A>C	ENSP00000386844.1:n.3668-2A>C
ENST00000472056.5:c.2465-2A>C	ENSP00000418285.1:n.2465-2A>C
ENST00000684597.1:c.117-503A>C
XM_005246065.1:c.3686-2A>C	XP_005246122.1:n.3686-2A>C
XM_005246066.1:c.3065-2A>C	XP_005246123.1:n.3065-2A>C
XM_006712253.1:c.4286-503A>C	XP_006712316.1:n.4286-503A>C
XM_011510574.1:c.4286-5A>C	XP_011508876.1:n.4286-5A>C
XM_011510575.1:c.1880-2A>C	XP_011508877.1:n.1880-2A>C
XM_017003304.1:c.1880-2A>C	XP_016858793.1:n.1880-2A>C
XM_024452684.1:c.3065-2A>C	XP_024308452.1:n.3065-2A>C