Canonical Allele Identifier: CA3443908

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140676685C>T , CM000667.2:g.140676685C>T	GRCh38
NC_000005.9:g.140056270C>T , CM000667.1:g.140056270C>T	GRCh37
NC_000005.8:g.140036454C>T	NCBI36
NG_032158.1:g.19702G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1163G>A MANE Select	NP_002100.2:p.Arg388Gln
ENST00000504156.7:c.1163G>A MANE Select	ENSP00000425634.1:p.Arg388Gln
NM_001258040.2:c.1043G>A	NP_001244969.1:p.Arg348Gln
NM_001258040.3:c.1043G>A	NP_001244969.1:p.Arg348Gln
NM_001258041.2:c.1103G>A	NP_001244970.1:p.Arg368Gln
NM_001258041.3:c.1103G>A	NP_001244970.1:p.Arg368Gln
NM_001258042.2:c.983G>A	NP_001244971.1:p.Arg328Gln
NM_001258042.3:c.983G>A	NP_001244971.1:p.Arg328Gln
NM_001289092.1:c.941G>A	NP_001276021.1:p.Arg314Gln
NM_001289092.2:c.941G>A	NP_001276021.1:p.Arg314Gln
NM_001289093.1:c.821G>A	NP_001276022.1:p.Arg274Gln
NM_001289093.2:c.821G>A	NP_001276022.1:p.Arg274Gln
NM_001289094.1:c.1076G>A	NP_001276023.1:p.Arg359Gln
NM_001289094.2:c.1076G>A	NP_001276023.1:p.Arg359Gln
NM_002109.5:c.1163G>A	NP_002100.2:p.Arg388Gln
ENST00000307633.7:c.983G>A	ENSP00000304668.3:p.Arg328Gln
ENST00000415192.6:c.941G>A	ENSP00000411085.2:p.Arg314Gln
ENST00000431330.6:c.821G>A	ENSP00000393244.2:p.Arg274Gln
ENST00000431330.7:c.821G>A	ENSP00000393244.2:p.Arg274Gln
ENST00000438307.6:c.1043G>A	ENSP00000411511.2:p.Arg348Gln
ENST00000457527.6:c.1103G>A	ENSP00000387893.2:p.Arg368Gln
ENST00000504156.5:c.1163G>A	ENSP00000425634.1:p.Arg388Gln
ENST00000504366.5:c.956G>A	ENSP00000430063.1:p.Arg319Gln
ENST00000506579.5:n.2220G>A
ENST00000506579.6:n.2388G>A
ENST00000507746.5:c.833G>A	ENSP00000425889.1:p.Arg278Gln
ENST00000507746.7:c.1163G>A	ENSP00000425889.2:p.Arg388Gln
ENST00000509087.2:c.181-1552G>A	ENSP00000502781.1:n.181-1552G>A
ENST00000512396.6:c.*1102G>A	ENSP00000421576.1:n.*1102G>A
ENST00000643686.1:c.*1218G>A	ENSP00000493611.1:n.*1218G>A
ENST00000645491.1:c.*1096G>A	ENSP00000494297.1:n.*1096G>A
ENST00000646229.1:c.1214G>A
ENST00000674523.1:c.*453G>A	ENSP00000501816.1:n.*453G>A
ENST00000675094.1:n.2260G>A
ENST00000675204.1:c.1163G>A	ENSP00000501643.1:p.Arg388Gln
ENST00000675355.1:n.948G>A
ENST00000675366.1:c.1163G>A	ENSP00000501747.1:p.Arg388Gln
ENST00000675698.1:c.956G>A	ENSP00000501581.1:p.Arg319Gln
ENST00000675763.1:n.3070G>A
ENST00000675827.1:c.*256G>A	ENSP00000501900.1:n.*256G>A
ENST00000675851.1:c.833G>A	ENSP00000502624.1:p.Arg278Gln
ENST00000675898.1:n.2981G>A
ENST00000675967.1:n.2777G>A
ENST00000676327.1:c.1055G>A	ENSP00000502594.1:p.Arg352Gln