Canonical Allele Identifier: CA361255445

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677922C>A , CM000667.2:g.140677922C>A	GRCh38
NC_000005.9:g.140057507C>A , CM000667.1:g.140057507C>A	GRCh37
NC_000005.8:g.140037691C>A	NCBI36
NG_032158.1:g.18465G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.616G>T MANE Select	NP_002100.2:p.Asp206Tyr
ENST00000504156.7:c.616G>T MANE Select	ENSP00000425634.1:p.Asp206Tyr
NM_001258040.2:c.496G>T	NP_001244969.1:p.Asp166Tyr
NM_001258040.3:c.496G>T	NP_001244969.1:p.Asp166Tyr
NM_001258041.2:c.556G>T	NP_001244970.1:p.Asp186Tyr
NM_001258041.3:c.556G>T	NP_001244970.1:p.Asp186Tyr
NM_001258042.2:c.436G>T	NP_001244971.1:p.Asp146Tyr
NM_001258042.3:c.436G>T	NP_001244971.1:p.Asp146Tyr
NM_001289092.1:c.394G>T	NP_001276021.1:p.Asp132Tyr
NM_001289092.2:c.394G>T	NP_001276021.1:p.Asp132Tyr
NM_001289093.1:c.274G>T	NP_001276022.1:p.Asp92Tyr
NM_001289093.2:c.274G>T	NP_001276022.1:p.Asp92Tyr
NM_001289094.1:c.529G>T	NP_001276023.1:p.Asp177Tyr
NM_001289094.2:c.529G>T	NP_001276023.1:p.Asp177Tyr
NM_002109.5:c.616G>T	NP_002100.2:p.Asp206Tyr
ENST00000307633.7:c.436G>T	ENSP00000304668.3:p.Asp146Tyr
ENST00000415192.6:c.394G>T	ENSP00000411085.2:p.Asp132Tyr
ENST00000431330.6:c.274G>T	ENSP00000393244.2:p.Asp92Tyr
ENST00000431330.7:c.274G>T	ENSP00000393244.2:p.Asp92Tyr
ENST00000438307.6:c.496G>T	ENSP00000411511.2:p.Asp166Tyr
ENST00000457527.6:c.556G>T	ENSP00000387893.2:p.Asp186Tyr
ENST00000504156.5:c.616G>T	ENSP00000425634.1:p.Asp206Tyr
ENST00000504366.5:c.409G>T	ENSP00000430063.1:p.Asp137Tyr
ENST00000506579.5:n.1519G>T
ENST00000506579.6:n.1687G>T
ENST00000507746.5:c.301-169G>T	ENSP00000425889.1:n.301-169G>T
ENST00000507746.7:c.616G>T	ENSP00000425889.2:p.Asp206Tyr
ENST00000509087.2:c.181-2789G>T	ENSP00000502781.1:n.181-2789G>T
ENST00000512396.6:c.*555G>T	ENSP00000421576.1:n.*555G>T
ENST00000643686.1:c.*671G>T	ENSP00000493611.1:n.*671G>T
ENST00000645491.1:c.*549G>T	ENSP00000494297.1:n.*549G>T
ENST00000646229.1:c.667G>T
ENST00000674523.1:c.616G>T	ENSP00000501816.1:p.Asp206Tyr
ENST00000675094.1:n.1687G>T
ENST00000675204.1:c.616G>T	ENSP00000501643.1:p.Asp206Tyr
ENST00000675355.1:n.401G>T
ENST00000675366.1:c.616G>T	ENSP00000501747.1:p.Asp206Tyr
ENST00000675698.1:c.409G>T	ENSP00000501581.1:p.Asp137Tyr
ENST00000675763.1:n.2523G>T
ENST00000675827.1:c.616G>T	ENSP00000501900.1:p.Asp206Tyr
ENST00000675851.1:c.301-169G>T	ENSP00000502624.1:n.301-169G>T
ENST00000675898.1:n.2434G>T
ENST00000675967.1:n.2076G>T
ENST00000676327.1:c.523-169G>T	ENSP00000502594.1:n.523-169G>T