Canonical Allele Identifier: CA3444113

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140679138A>C , CM000667.2:g.140679138A>C	GRCh38
NC_000005.9:g.140058723A>C , CM000667.1:g.140058723A>C	GRCh37
NC_000005.8:g.140038907A>C	NCBI36
NG_032158.1:g.17249T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.397-11T>G MANE Select	NP_002100.2:n.397-11T>G
ENST00000504156.7:c.397-11T>G MANE Select	ENSP00000425634.1:n.397-11T>G
NM_001258040.2:c.277-11T>G	NP_001244969.1:n.277-11T>G
NM_001258040.3:c.277-11T>G	NP_001244969.1:n.277-11T>G
NM_001258041.2:c.397-11T>G	NP_001244970.1:n.397-11T>G
NM_001258041.3:c.397-11T>G	NP_001244970.1:n.397-11T>G
NM_001258042.2:c.277-11T>G	NP_001244971.1:n.277-11T>G
NM_001258042.3:c.277-11T>G	NP_001244971.1:n.277-11T>G
NM_001289092.1:c.301-1123T>G	NP_001276021.1:n.301-1123T>G
NM_001289092.2:c.301-1123T>G	NP_001276021.1:n.301-1123T>G
NM_001289093.1:c.181-1123T>G	NP_001276022.1:n.181-1123T>G
NM_001289093.2:c.181-1123T>G	NP_001276022.1:n.181-1123T>G
NM_001289094.1:c.310-11T>G	NP_001276023.1:n.310-11T>G
NM_001289094.2:c.310-11T>G	NP_001276023.1:n.310-11T>G
NM_002109.5:c.397-11T>G	NP_002100.2:n.397-11T>G
ENST00000307633.7:c.277-11T>G	ENSP00000304668.3:n.277-11T>G
ENST00000415192.6:c.301-1123T>G	ENSP00000411085.2:n.301-1123T>G
ENST00000431330.6:c.181-1123T>G	ENSP00000393244.2:n.181-1123T>G
ENST00000431330.7:c.181-1123T>G	ENSP00000393244.2:n.181-1123T>G
ENST00000438307.6:c.277-11T>G	ENSP00000411511.2:n.277-11T>G
ENST00000457527.6:c.397-11T>G	ENSP00000387893.2:n.397-11T>G
ENST00000504156.5:c.397-11T>G	ENSP00000425634.1:n.397-11T>G
ENST00000504366.5:c.190-11T>G	ENSP00000430063.1:n.190-11T>G
ENST00000506579.5:n.314-11T>G
ENST00000506579.6:n.482-11T>G
ENST00000507746.5:c.301-1385T>G	ENSP00000425889.1:n.301-1385T>G
ENST00000507746.7:c.397-11T>G	ENSP00000425889.2:n.397-11T>G
ENST00000509087.2:c.181-4005T>G	ENSP00000502781.1:n.181-4005T>G
ENST00000512396.5:c.*336-11T>G	ENSP00000421576.1:n.*336-11T>G
ENST00000512396.6:c.*336-11T>G	ENSP00000421576.1:n.*336-11T>G
ENST00000518126.6:n.1085T>G
ENST00000643686.1:c.*452-11T>G	ENSP00000493611.1:n.*452-11T>G
ENST00000645491.1:c.*330-11T>G	ENSP00000494297.1:n.*330-11T>G
ENST00000646229.1:c.448-11T>G
ENST00000674523.1:c.397-11T>G	ENSP00000501816.1:n.397-11T>G
ENST00000675094.1:n.482-11T>G
ENST00000675204.1:c.397-11T>G	ENSP00000501643.1:n.397-11T>G
ENST00000675355.1:n.242-11T>G
ENST00000675366.1:c.397-11T>G	ENSP00000501747.1:n.397-11T>G
ENST00000675698.1:c.190-11T>G	ENSP00000501581.1:n.190-11T>G
ENST00000675763.1:n.1318-11T>G
ENST00000675827.1:c.397-11T>G	ENSP00000501900.1:n.397-11T>G
ENST00000675851.1:c.301-1385T>G	ENSP00000502624.1:n.301-1385T>G
ENST00000675898.1:n.1218T>G
ENST00000675967.1:n.871-11T>G
ENST00000676327.1:c.397-11T>G	ENSP00000502594.1:n.397-11T>G