Canonical Allele Identifier: CA3443966

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677037G>T , CM000667.2:g.140677037G>T	GRCh38
NC_000005.9:g.140056622G>T , CM000667.1:g.140056622G>T	GRCh37
NC_000005.8:g.140036806G>T	NCBI36
NG_032158.1:g.19350C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.903C>A MANE Select	NP_002100.2:p.Asp301Glu
ENST00000504156.7:c.903C>A MANE Select	ENSP00000425634.1:p.Asp301Glu
NM_001258040.2:c.783C>A	NP_001244969.1:p.Asp261Glu
NM_001258040.3:c.783C>A	NP_001244969.1:p.Asp261Glu
NM_001258041.2:c.843C>A	NP_001244970.1:p.Asp281Glu
NM_001258041.3:c.843C>A	NP_001244970.1:p.Asp281Glu
NM_001258042.2:c.723C>A	NP_001244971.1:p.Asp241Glu
NM_001258042.3:c.723C>A	NP_001244971.1:p.Asp241Glu
NM_001289092.1:c.681C>A	NP_001276021.1:p.Asp227Glu
NM_001289092.2:c.681C>A	NP_001276021.1:p.Asp227Glu
NM_001289093.1:c.561C>A	NP_001276022.1:p.Asp187Glu
NM_001289093.2:c.561C>A	NP_001276022.1:p.Asp187Glu
NM_001289094.1:c.816C>A	NP_001276023.1:p.Asp272Glu
NM_001289094.2:c.816C>A	NP_001276023.1:p.Asp272Glu
NM_002109.5:c.903C>A	NP_002100.2:p.Asp301Glu
ENST00000307633.7:c.723C>A	ENSP00000304668.3:p.Asp241Glu
ENST00000415192.6:c.681C>A	ENSP00000411085.2:p.Asp227Glu
ENST00000431330.6:c.561C>A	ENSP00000393244.2:p.Asp187Glu
ENST00000431330.7:c.561C>A	ENSP00000393244.2:p.Asp187Glu
ENST00000438307.6:c.783C>A	ENSP00000411511.2:p.Asp261Glu
ENST00000457527.6:c.843C>A	ENSP00000387893.2:p.Asp281Glu
ENST00000504156.5:c.903C>A	ENSP00000425634.1:p.Asp301Glu
ENST00000504366.5:c.696C>A	ENSP00000430063.1:p.Asp232Glu
ENST00000506579.5:n.1960C>A
ENST00000506579.6:n.2128C>A
ENST00000507746.5:c.573C>A	ENSP00000425889.1:p.Asp191Glu
ENST00000507746.7:c.903C>A	ENSP00000425889.2:p.Asp301Glu
ENST00000509087.2:c.181-1904C>A	ENSP00000502781.1:n.181-1904C>A
ENST00000512396.6:c.*842C>A	ENSP00000421576.1:n.*842C>A
ENST00000643686.1:c.*958C>A	ENSP00000493611.1:n.*958C>A
ENST00000645491.1:c.*836C>A	ENSP00000494297.1:n.*836C>A
ENST00000646229.1:c.954C>A
ENST00000674523.1:c.*193C>A	ENSP00000501816.1:n.*193C>A
ENST00000675094.1:n.2000C>A
ENST00000675204.1:c.903C>A	ENSP00000501643.1:p.Asp301Glu
ENST00000675355.1:n.688C>A
ENST00000675366.1:c.903C>A	ENSP00000501747.1:p.Asp301Glu
ENST00000675698.1:c.696C>A	ENSP00000501581.1:p.Asp232Glu
ENST00000675763.1:n.2810C>A
ENST00000675827.1:c.809C>A	ENSP00000501900.1:p.Thr270Asn
ENST00000675851.1:c.573C>A	ENSP00000502624.1:p.Asp191Glu
ENST00000675898.1:n.2721C>A
ENST00000675967.1:n.2517C>A
ENST00000676327.1:c.795C>A	ENSP00000502594.1:p.Asp265Glu