Canonical Allele Identifier: CA3443820

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140674692G>C , CM000667.2:g.140674692G>C	GRCh38
NC_000005.9:g.140054277G>C , CM000667.1:g.140054277G>C	GRCh37
NC_000005.8:g.140034461G>C	NCBI36
NG_032158.1:g.21695C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1445C>G MANE Select	NP_002100.2:p.Thr482Arg
ENST00000504156.7:c.1445C>G MANE Select	ENSP00000425634.1:p.Thr482Arg
NM_001258040.2:c.1325C>G	NP_001244969.1:p.Thr442Arg
NM_001258040.3:c.1325C>G	NP_001244969.1:p.Thr442Arg
NM_001258041.2:c.1385C>G	NP_001244970.1:p.Thr462Arg
NM_001258041.3:c.1385C>G	NP_001244970.1:p.Thr462Arg
NM_001258042.2:c.1265C>G	NP_001244971.1:p.Thr422Arg
NM_001258042.3:c.1265C>G	NP_001244971.1:p.Thr422Arg
NM_001289092.1:c.1223C>G	NP_001276021.1:p.Thr408Arg
NM_001289092.2:c.1223C>G	NP_001276021.1:p.Thr408Arg
NM_001289093.1:c.1103C>G	NP_001276022.1:p.Thr368Arg
NM_001289093.2:c.1103C>G	NP_001276022.1:p.Thr368Arg
NM_001289094.1:c.1358C>G	NP_001276023.1:p.Thr453Arg
NM_001289094.2:c.1358C>G	NP_001276023.1:p.Thr453Arg
NM_002109.5:c.1445C>G	NP_002100.2:p.Thr482Arg
ENST00000307633.7:c.1265C>G	ENSP00000304668.3:p.Thr422Arg
ENST00000415192.6:c.1223C>G	ENSP00000411085.2:p.Thr408Arg
ENST00000431330.6:c.1103C>G	ENSP00000393244.2:p.Thr368Arg
ENST00000431330.7:c.1103C>G	ENSP00000393244.2:p.Thr368Arg
ENST00000438307.6:c.1325C>G	ENSP00000411511.2:p.Thr442Arg
ENST00000457527.6:c.1385C>G	ENSP00000387893.2:p.Thr462Arg
ENST00000504156.5:c.1445C>G	ENSP00000425634.1:p.Thr482Arg
ENST00000504366.5:c.1238C>G	ENSP00000430063.1:p.Thr413Arg
ENST00000506579.6:n.4190C>G
ENST00000507746.7:c.1445C>G	ENSP00000425889.2:p.Thr482Arg
ENST00000509087.1:n.451C>G
ENST00000509087.2:c.431C>G	ENSP00000502781.1:p.Thr144Arg
ENST00000512396.6:c.*1384C>G	ENSP00000421576.1:n.*1384C>G
ENST00000643686.1:c.*1500C>G	ENSP00000493611.1:n.*1500C>G
ENST00000645491.1:c.*1378C>G	ENSP00000494297.1:n.*1378C>G
ENST00000646229.1:c.1496C>G
ENST00000674523.1:c.*735C>G	ENSP00000501816.1:n.*735C>G
ENST00000675094.1:n.2542C>G
ENST00000675204.1:c.1445C>G	ENSP00000501643.1:p.Thr482Arg
ENST00000675355.1:n.1230C>G
ENST00000675366.1:c.1328C>G	ENSP00000501747.1:p.Thr443Arg
ENST00000675698.1:c.1238C>G	ENSP00000501581.1:p.Thr413Arg
ENST00000675763.1:n.3352C>G
ENST00000675827.1:c.*538C>G	ENSP00000501900.1:n.*538C>G
ENST00000675851.1:c.1115C>G	ENSP00000502624.1:p.Thr372Arg
ENST00000675898.1:n.3263C>G
ENST00000675967.1:n.3059C>G
ENST00000676327.1:c.1337C>G	ENSP00000502594.1:p.Thr446Arg