Canonical Allele Identifier: CA3444022

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677689C>T , CM000667.2:g.140677689C>T	GRCh38
NC_000005.9:g.140057274C>T , CM000667.1:g.140057274C>T	GRCh37
NC_000005.8:g.140037458C>T	NCBI36
NG_032158.1:g.18698G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.695G>A MANE Select	NP_002100.2:p.Arg232His
ENST00000504156.7:c.695G>A MANE Select	ENSP00000425634.1:p.Arg232His
NM_001258040.2:c.575G>A	NP_001244969.1:p.Arg192His
NM_001258040.3:c.575G>A	NP_001244969.1:p.Arg192His
NM_001258041.2:c.635G>A	NP_001244970.1:p.Arg212His
NM_001258041.3:c.635G>A	NP_001244970.1:p.Arg212His
NM_001258042.2:c.515G>A	NP_001244971.1:p.Arg172His
NM_001258042.3:c.515G>A	NP_001244971.1:p.Arg172His
NM_001289092.1:c.473G>A	NP_001276021.1:p.Arg158His
NM_001289092.2:c.473G>A	NP_001276021.1:p.Arg158His
NM_001289093.1:c.353G>A	NP_001276022.1:p.Arg118His
NM_001289093.2:c.353G>A	NP_001276022.1:p.Arg118His
NM_001289094.1:c.608G>A	NP_001276023.1:p.Arg203His
NM_001289094.2:c.608G>A	NP_001276023.1:p.Arg203His
NM_002109.5:c.695G>A	NP_002100.2:p.Arg232His
ENST00000307633.7:c.515G>A	ENSP00000304668.3:p.Arg172His
ENST00000415192.6:c.473G>A	ENSP00000411085.2:p.Arg158His
ENST00000431330.6:c.353G>A	ENSP00000393244.2:p.Arg118His
ENST00000431330.7:c.353G>A	ENSP00000393244.2:p.Arg118His
ENST00000438307.6:c.575G>A	ENSP00000411511.2:p.Arg192His
ENST00000457527.6:c.635G>A	ENSP00000387893.2:p.Arg212His
ENST00000504156.5:c.695G>A	ENSP00000425634.1:p.Arg232His
ENST00000504366.5:c.488G>A	ENSP00000430063.1:p.Arg163His
ENST00000506579.5:n.1752G>A
ENST00000506579.6:n.1920G>A
ENST00000507746.5:c.365G>A	ENSP00000425889.1:p.Arg122His
ENST00000507746.7:c.695G>A	ENSP00000425889.2:p.Arg232His
ENST00000509087.2:c.181-2556G>A	ENSP00000502781.1:n.181-2556G>A
ENST00000512396.6:c.*634G>A	ENSP00000421576.1:n.*634G>A
ENST00000643686.1:c.*750G>A	ENSP00000493611.1:n.*750G>A
ENST00000645491.1:c.*628G>A	ENSP00000494297.1:n.*628G>A
ENST00000646229.1:c.746G>A
ENST00000674523.1:c.695G>A	ENSP00000501816.1:p.Arg232His
ENST00000675094.1:n.1766G>A
ENST00000675204.1:c.695G>A	ENSP00000501643.1:p.Arg232His
ENST00000675355.1:n.480G>A
ENST00000675366.1:c.695G>A	ENSP00000501747.1:p.Arg232His
ENST00000675698.1:c.488G>A	ENSP00000501581.1:p.Arg163His
ENST00000675763.1:n.2602G>A
ENST00000675827.1:c.695G>A	ENSP00000501900.1:p.Arg232His
ENST00000675851.1:c.365G>A	ENSP00000502624.1:p.Arg122His
ENST00000675898.1:n.2513G>A
ENST00000675967.1:n.2309G>A
ENST00000676327.1:c.587G>A	ENSP00000502594.1:p.Arg196His