Canonical Allele Identifier: CA2188514

Gene: COL6A3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237363366G>A , CM000664.2:g.237363366G>A	GRCh38
NC_000002.11:g.238272009G>A , CM000664.1:g.238272009G>A	GRCh37
NC_000002.10:g.237936748G>A	NCBI36
NG_008676.1:g.55842C>T , LRG_473:g.55842C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004369.4:c.5950C>T MANE Select	NP_004360.2:p.Arg1984Ter
ENST00000295550.9:c.5950C>T MANE Select	ENSP00000295550.4:p.Arg1984Ter
NM_004369.3:c.5950C>T , LRG_473t1:c.5950C>T	NP_004360.2:p.Arg1984Ter
NM_057166.4:c.4129C>T	NP_476507.3:p.Arg1377Ter
NM_057166.5:c.4129C>T	NP_476507.3:p.Arg1377Ter
NM_057167.3:c.5332C>T	NP_476508.2:p.Arg1778Ter
NM_057167.4:c.5332C>T	NP_476508.2:p.Arg1778Ter
ENST00000295550.8:c.5950C>T	ENSP00000295550.4:p.Arg1984Ter
ENST00000347401.7:c.4129C>T	ENSP00000315609.4:p.Arg1377Ter
ENST00000353578.8:c.5332C>T	ENSP00000315873.4:p.Arg1778Ter
ENST00000353578.9:c.5332C>T	ENSP00000315873.4:p.Arg1778Ter
ENST00000409809.5:c.5332C>T	ENSP00000386844.1:p.Arg1778Ter
ENST00000472056.5:c.4129C>T	ENSP00000418285.1:p.Arg1377Ter
XM_005246065.1:c.5350C>T	XP_005246122.1:p.Arg1784Ter
XM_005246066.1:c.4729C>T	XP_005246123.1:p.Arg1577Ter
XM_006712253.1:c.5449C>T	XP_006712316.1:p.Arg1817Ter
XM_011510574.1:c.5947C>T	XP_011508876.1:p.Arg1983Ter
XM_011510575.1:c.3544C>T	XP_011508877.1:p.Arg1182Ter
XM_017003304.1:c.3544C>T	XP_016858793.1:p.Arg1182Ter
XM_024452684.1:c.4729C>T	XP_024308452.1:p.Arg1577Ter