Canonical Allele Identifier: CA128376664

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140674765C>T , CM000667.2:g.140674765C>T	GRCh38
NC_000005.9:g.140054350C>T , CM000667.1:g.140054350C>T	GRCh37
NC_000005.8:g.140034534C>T	NCBI36
NG_032158.1:g.21622G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1372G>A MANE Select	NP_002100.2:p.Ala458Thr
ENST00000504156.7:c.1372G>A MANE Select	ENSP00000425634.1:p.Ala458Thr
NM_001258040.2:c.1252G>A	NP_001244969.1:p.Ala418Thr
NM_001258040.3:c.1252G>A	NP_001244969.1:p.Ala418Thr
NM_001258041.2:c.1312G>A	NP_001244970.1:p.Ala438Thr
NM_001258041.3:c.1312G>A	NP_001244970.1:p.Ala438Thr
NM_001258042.2:c.1192G>A	NP_001244971.1:p.Ala398Thr
NM_001258042.3:c.1192G>A	NP_001244971.1:p.Ala398Thr
NM_001289092.1:c.1150G>A	NP_001276021.1:p.Ala384Thr
NM_001289092.2:c.1150G>A	NP_001276021.1:p.Ala384Thr
NM_001289093.1:c.1030G>A	NP_001276022.1:p.Ala344Thr
NM_001289093.2:c.1030G>A	NP_001276022.1:p.Ala344Thr
NM_001289094.1:c.1285G>A	NP_001276023.1:p.Ala429Thr
NM_001289094.2:c.1285G>A	NP_001276023.1:p.Ala429Thr
NM_002109.5:c.1372G>A	NP_002100.2:p.Ala458Thr
ENST00000307633.7:c.1192G>A	ENSP00000304668.3:p.Ala398Thr
ENST00000415192.6:c.1150G>A	ENSP00000411085.2:p.Ala384Thr
ENST00000431330.6:c.1030G>A	ENSP00000393244.2:p.Ala344Thr
ENST00000431330.7:c.1030G>A	ENSP00000393244.2:p.Ala344Thr
ENST00000438307.6:c.1252G>A	ENSP00000411511.2:p.Ala418Thr
ENST00000457527.6:c.1312G>A	ENSP00000387893.2:p.Ala438Thr
ENST00000504156.5:c.1372G>A	ENSP00000425634.1:p.Ala458Thr
ENST00000504366.5:c.1165G>A	ENSP00000430063.1:p.Ala389Thr
ENST00000506579.6:n.4117G>A
ENST00000507746.7:c.1372G>A	ENSP00000425889.2:p.Ala458Thr
ENST00000509087.1:n.378G>A
ENST00000509087.2:c.358G>A	ENSP00000502781.1:p.Ala120Thr
ENST00000512396.6:c.*1311G>A	ENSP00000421576.1:n.*1311G>A
ENST00000643686.1:c.*1427G>A	ENSP00000493611.1:n.*1427G>A
ENST00000645491.1:c.*1305G>A	ENSP00000494297.1:n.*1305G>A
ENST00000646229.1:c.1423G>A
ENST00000674523.1:c.*662G>A	ENSP00000501816.1:n.*662G>A
ENST00000675094.1:n.2469G>A
ENST00000675204.1:c.1372G>A	ENSP00000501643.1:p.Ala458Thr
ENST00000675355.1:n.1157G>A
ENST00000675366.1:c.1255G>A	ENSP00000501747.1:p.Ala419Thr
ENST00000675698.1:c.1165G>A	ENSP00000501581.1:p.Ala389Thr
ENST00000675763.1:n.3279G>A
ENST00000675827.1:c.*465G>A	ENSP00000501900.1:n.*465G>A
ENST00000675851.1:c.1042G>A	ENSP00000502624.1:p.Ala348Thr
ENST00000675898.1:n.3190G>A
ENST00000675967.1:n.2986G>A
ENST00000676327.1:c.1264G>A	ENSP00000502594.1:p.Ala422Thr