Canonical Allele Identifier: CA2189290

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237376905G>T , CM000664.2:g.237376905G>T	GRCh38
NC_000002.11:g.238285548G>T , CM000664.1:g.238285548G>T	GRCh37
NC_000002.10:g.237950287G>T	NCBI36
NG_008676.1:g.42303C>A , LRG_473:g.42303C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.2937C>A MANE Select	NP_004360.2:p.Asp979Glu
ENST00000295550.9:c.2937C>A MANE Select	ENSP00000295550.4:p.Asp979Glu
NM_004369.3:c.2937C>A , LRG_473t1:c.2937C>A	NP_004360.2:p.Asp979Glu
NM_057164.4:c.1716C>A	NP_476505.3:p.Asp572Glu
NM_057164.5:c.1716C>A	NP_476505.3:p.Asp572Glu
NM_057165.4:c.2319C>A	NP_476506.3:p.Asp773Glu
NM_057165.5:c.2319C>A	NP_476506.3:p.Asp773Glu
NM_057166.4:c.1116C>A	NP_476507.3:p.Asp372Glu
NM_057166.5:c.1116C>A	NP_476507.3:p.Asp372Glu
NM_057167.3:c.2319C>A	NP_476508.2:p.Asp773Glu
NM_057167.4:c.2319C>A	NP_476508.2:p.Asp773Glu
ENST00000295550.8:c.2937C>A	ENSP00000295550.4:p.Asp979Glu
ENST00000347401.7:c.1116C>A	ENSP00000315609.4:p.Asp372Glu
ENST00000353578.8:c.2319C>A	ENSP00000315873.4:p.Asp773Glu
ENST00000353578.9:c.2319C>A	ENSP00000315873.4:p.Asp773Glu
ENST00000392003.6:c.1716C>A	ENSP00000375860.2:p.Asp572Glu
ENST00000392004.7:c.2319C>A	ENSP00000375861.3:p.Asp773Glu
ENST00000409809.5:c.2319C>A	ENSP00000386844.1:p.Asp773Glu
ENST00000472056.5:c.1116C>A	ENSP00000418285.1:p.Asp372Glu
XM_005246065.1:c.2337C>A	XP_005246122.1:p.Asp779Glu
XM_005246066.1:c.1716C>A	XP_005246123.1:p.Asp572Glu
XM_006712253.1:c.2937C>A	XP_006712316.1:p.Asp979Glu
XM_011510574.1:c.2937C>A	XP_011508876.1:p.Asp979Glu
XM_011510575.1:c.531C>A	XP_011508877.1:p.Asp177Glu
XM_017003304.1:c.531C>A	XP_016858793.1:p.Asp177Glu
XM_024452684.1:c.1716C>A	XP_024308452.1:p.Asp572Glu