Canonical Allele Identifier: CA3444165

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140683190C>T , CM000667.2:g.140683190C>T	GRCh38
NC_000005.9:g.140062775C>T , CM000667.1:g.140062775C>T	GRCh37
NC_000005.8:g.140042959C>T	NCBI36
NG_032158.1:g.13197G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.210G>A MANE Select	NP_002100.2:p.Met70Ile
ENST00000504156.7:c.210G>A MANE Select	ENSP00000425634.1:p.Met70Ile
NM_001258040.2:c.181-3307G>A	NP_001244969.1:n.181-3307G>A
NM_001258040.3:c.181-3307G>A	NP_001244969.1:n.181-3307G>A
NM_001258041.2:c.210G>A	NP_001244970.1:p.Met70Ile
NM_001258041.3:c.210G>A	NP_001244970.1:p.Met70Ile
NM_001258042.2:c.181-3307G>A	NP_001244971.1:n.181-3307G>A
NM_001258042.3:c.181-3307G>A	NP_001244971.1:n.181-3307G>A
NM_001289092.1:c.210G>A	NP_001276021.1:p.Met70Ile
NM_001289092.2:c.210G>A	NP_001276021.1:p.Met70Ile
NM_001289093.1:c.181-5175G>A	NP_001276022.1:n.181-5175G>A
NM_001289093.2:c.181-5175G>A	NP_001276022.1:n.181-5175G>A
NM_001289094.1:c.123G>A	NP_001276023.1:p.Met41Ile
NM_001289094.2:c.123G>A	NP_001276023.1:p.Met41Ile
NM_002109.5:c.210G>A	NP_002100.2:p.Met70Ile
ENST00000307633.7:c.181-3307G>A	ENSP00000304668.3:n.181-3307G>A
ENST00000415192.6:c.210G>A	ENSP00000411085.2:p.Met70Ile
ENST00000431330.6:c.181-5175G>A	ENSP00000393244.2:n.181-5175G>A
ENST00000431330.7:c.181-5175G>A	ENSP00000393244.2:n.181-5175G>A
ENST00000438307.6:c.181-3307G>A	ENSP00000411511.2:n.181-3307G>A
ENST00000457527.6:c.210G>A	ENSP00000387893.2:p.Met70Ile
ENST00000502888.1:n.202G>A
ENST00000502888.2:n.259G>A
ENST00000504156.5:c.210G>A	ENSP00000425634.1:p.Met70Ile
ENST00000504366.5:c.3G>A	ENSP00000430063.1:p.Met1Ile
ENST00000506579.5:n.218-3307G>A
ENST00000506579.6:n.295G>A
ENST00000507746.5:c.210G>A	ENSP00000425889.1:p.Met70Ile
ENST00000507746.7:c.210G>A	ENSP00000425889.2:p.Met70Ile
ENST00000509087.2:c.180+7665G>A	ENSP00000502781.1:n.180+7665G>A
ENST00000512396.5:c.*149G>A	ENSP00000421576.1:n.*149G>A
ENST00000512396.6:c.*149G>A	ENSP00000421576.1:n.*149G>A
ENST00000518126.5:n.245G>A
ENST00000518126.6:n.249G>A
ENST00000643686.1:c.*265G>A	ENSP00000493611.1:n.*265G>A
ENST00000645491.1:c.*143G>A	ENSP00000494297.1:n.*143G>A
ENST00000646229.1:c.261G>A
ENST00000674523.1:c.210G>A	ENSP00000501816.1:p.Met70Ile
ENST00000675094.1:n.295G>A
ENST00000675204.1:c.210G>A	ENSP00000501643.1:p.Met70Ile
ENST00000675355.1:n.55G>A
ENST00000675366.1:c.210G>A	ENSP00000501747.1:p.Met70Ile
ENST00000675698.1:c.94-3307G>A	ENSP00000501581.1:n.94-3307G>A
ENST00000675763.1:n.1131G>A
ENST00000675827.1:c.210G>A	ENSP00000501900.1:p.Met70Ile
ENST00000675851.1:c.210G>A	ENSP00000502624.1:p.Met70Ile
ENST00000675967.1:n.684G>A
ENST00000676327.1:c.210G>A	ENSP00000502594.1:p.Met70Ile