Canonical Allele Identifier: CA361254190

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677407T>C , CM000667.2:g.140677407T>C	GRCh38
NC_000005.9:g.140056992T>C , CM000667.1:g.140056992T>C	GRCh37
NC_000005.8:g.140037176T>C	NCBI36
NG_032158.1:g.18980A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431330.7:c.401A>G	ENSP00000393244.2:p.Glu134Gly
ENST00000504156.7:c.743A>G MANE Select	ENSP00000425634.1:p.Glu248Gly
ENST00000506579.6:n.1968A>G
ENST00000507746.7:c.743A>G	ENSP00000425889.2:p.Glu248Gly
ENST00000509087.2:c.181-2274A>G	ENSP00000502781.1:n.181-2274A>G
ENST00000512396.6:c.*682A>G	ENSP00000421576.1:n.*682A>G
ENST00000643686.1:c.*798A>G	ENSP00000493611.1:n.*798A>G
ENST00000645491.1:c.*676A>G	ENSP00000494297.1:n.*676A>G
ENST00000646229.1:c.794A>G
ENST00000674523.1:c.*33A>G	ENSP00000501816.1:n.*33A>G
ENST00000675094.1:n.1814A>G
ENST00000675204.1:c.743A>G	ENSP00000501643.1:p.Glu248Gly
ENST00000675355.1:n.528A>G
ENST00000675366.1:c.743A>G	ENSP00000501747.1:p.Glu248Gly
ENST00000675698.1:c.536A>G	ENSP00000501581.1:p.Glu179Gly
ENST00000675763.1:n.2650A>G
ENST00000675827.1:c.729+248A>G	ENSP00000501900.1:n.729+248A>G
ENST00000675851.1:c.413A>G	ENSP00000502624.1:p.Glu138Gly
ENST00000675898.1:n.2561A>G
ENST00000675967.1:n.2357A>G
ENST00000676327.1:c.635A>G	ENSP00000502594.1:p.Glu212Gly
ENST00000307633.7:c.563A>G	ENSP00000304668.3:p.Glu188Gly
ENST00000415192.6:c.521A>G	ENSP00000411085.2:p.Glu174Gly
ENST00000431330.6:c.401A>G	ENSP00000393244.2:p.Glu134Gly
ENST00000438307.6:c.623A>G	ENSP00000411511.2:p.Glu208Gly
ENST00000457527.6:c.683A>G	ENSP00000387893.2:p.Glu228Gly
ENST00000504156.5:c.743A>G	ENSP00000425634.1:p.Glu248Gly
ENST00000504366.5:c.536A>G	ENSP00000430063.1:p.Glu179Gly
ENST00000506579.5:n.1800A>G
ENST00000507746.5:c.413A>G	ENSP00000425889.1:p.Glu138Gly
NM_001258040.2:c.623A>G	NP_001244969.1:p.Glu208Gly
NM_001258041.2:c.683A>G	NP_001244970.1:p.Glu228Gly
NM_001258042.2:c.563A>G	NP_001244971.1:p.Glu188Gly
NM_001289092.1:c.521A>G	NP_001276021.1:p.Glu174Gly
NM_001289093.1:c.401A>G	NP_001276022.1:p.Glu134Gly
NM_001289094.1:c.656A>G	NP_001276023.1:p.Glu219Gly
NM_002109.5:c.743A>G	NP_002100.2:p.Glu248Gly
NM_002109.6:c.743A>G MANE Select	NP_002100.2:p.Glu248Gly
NM_001258040.3:c.623A>G	NP_001244969.1:p.Glu208Gly
NM_001258041.3:c.683A>G	NP_001244970.1:p.Glu228Gly
NM_001258042.3:c.563A>G	NP_001244971.1:p.Glu188Gly
NM_001289092.2:c.521A>G	NP_001276021.1:p.Glu174Gly
NM_001289093.2:c.401A>G	NP_001276022.1:p.Glu134Gly
NM_001289094.2:c.656A>G	NP_001276023.1:p.Glu219Gly