Canonical Allele Identifier: CA2188334

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237359208C>A , CM000664.2:g.237359208C>A	GRCh38
NC_000002.11:g.238267851C>A , CM000664.1:g.238267851C>A	GRCh37
NC_000002.10:g.237932590C>A	NCBI36
NG_008676.1:g.60000G>T , LRG_473:g.60000G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.6352G>T MANE Select	NP_004360.2:p.Asp2118Tyr
ENST00000295550.9:c.6352G>T MANE Select	ENSP00000295550.4:p.Asp2118Tyr
NM_004369.3:c.6352G>T , LRG_473t1:c.6352G>T	NP_004360.2:p.Asp2118Tyr
NM_057166.4:c.4531G>T	NP_476507.3:p.Asp1511Tyr
NM_057166.5:c.4531G>T	NP_476507.3:p.Asp1511Tyr
NM_057167.3:c.5734G>T	NP_476508.2:p.Asp1912Tyr
NM_057167.4:c.5734G>T	NP_476508.2:p.Asp1912Tyr
ENST00000295550.8:c.6352G>T	ENSP00000295550.4:p.Asp2118Tyr
ENST00000347401.7:c.4531G>T	ENSP00000315609.4:p.Asp1511Tyr
ENST00000353578.8:c.5734G>T	ENSP00000315873.4:p.Asp1912Tyr
ENST00000353578.9:c.5734G>T	ENSP00000315873.4:p.Asp1912Tyr
ENST00000409809.5:c.5734G>T	ENSP00000386844.1:p.Asp1912Tyr
ENST00000472056.5:c.4531G>T	ENSP00000418285.1:p.Asp1511Tyr
XM_005246065.1:c.5752G>T	XP_005246122.1:p.Asp1918Tyr
XM_005246066.1:c.5131G>T	XP_005246123.1:p.Asp1711Tyr
XM_006712253.1:c.5851G>T	XP_006712316.1:p.Asp1951Tyr
XM_011510574.1:c.6349G>T	XP_011508876.1:p.Asp2117Tyr
XM_011510575.1:c.3946G>T	XP_011508877.1:p.Asp1316Tyr
XM_017003304.1:c.3946G>T	XP_016858793.1:p.Asp1316Tyr
XM_024452684.1:c.5131G>T	XP_024308452.1:p.Asp1711Tyr