Canonical Allele Identifier: CA431674559

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237325564A>G , CM000664.2:g.237325564A>G	GRCh38
NC_000002.11:g.238234207A>G , CM000664.1:g.238234207A>G	GRCh37
NC_000002.10:g.237898946A>G	NCBI36
NG_008676.1:g.93644T>C , LRG_473:g.93644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1870T>C
ENST00000353578.9:c.8871T>C	ENSP00000315873.4:p.Ala2957=
ENST00000682957.1:c.1616T>C
ENST00000683348.1:c.355T>C	ENSP00000508058.1:n.355T>C
ENST00000295550.9:c.9489T>C MANE Select	ENSP00000295550.4:p.Ala3163=
ENST00000295550.8:c.9489T>C	ENSP00000295550.4:p.Ala3163=
ENST00000347401.7:c.7665T>C	ENSP00000315609.4:p.Ala2555=
ENST00000353578.8:c.8871T>C	ENSP00000315873.4:p.Ala2957=
ENST00000409809.5:c.8871T>C	ENSP00000386844.1:p.Ala2957=
ENST00000472056.5:c.7668T>C	ENSP00000418285.1:p.Ala2556=
ENST00000473258.1:n.4617T>C
ENST00000491769.1:n.5931T>C
NM_004369.3:c.9489T>C , LRG_473t1:c.9489T>C	NP_004360.2:p.Ala3163=
NM_057166.4:c.7668T>C	NP_476507.3:p.Ala2556=
NM_057167.3:c.8871T>C	NP_476508.2:p.Ala2957=
XM_005246065.1:c.8889T>C	XP_005246122.1:p.Ala2963=
XM_005246066.1:c.8268T>C	XP_005246123.1:p.Ala2756=
XM_006712253.1:c.8988T>C	XP_006712316.1:p.Ala2996=
XM_011510574.1:c.9486T>C	XP_011508876.1:p.Ala3162=
XM_011510575.1:c.7083T>C	XP_011508877.1:p.Ala2361=
XM_017003304.1:c.7083T>C	XP_016858793.1:p.Ala2361=
XM_024452684.1:c.8268T>C	XP_024308452.1:p.Ala2756=
NM_004369.4:c.9489T>C MANE Select	NP_004360.2:p.Ala3163=
NM_057166.5:c.7668T>C	NP_476507.3:p.Ala2556=
NM_057167.4:c.8871T>C	NP_476508.2:p.Ala2957=