Canonical Allele Identifier: CA804731779

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140676984C>A , CM000667.2:g.140676984C>A	GRCh38
NC_000005.9:g.140056569C>A , CM000667.1:g.140056569C>A	GRCh37
NC_000005.8:g.140036753C>A	NCBI36
NG_032158.1:g.19403G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.951+5G>T MANE Select	NP_002100.2:n.951+5G>T
ENST00000504156.7:c.951+5G>T MANE Select	ENSP00000425634.1:n.951+5G>T
NM_001258040.2:c.831+5G>T	NP_001244969.1:n.831+5G>T
NM_001258040.3:c.831+5G>T	NP_001244969.1:n.831+5G>T
NM_001258041.2:c.891+5G>T	NP_001244970.1:n.891+5G>T
NM_001258041.3:c.891+5G>T	NP_001244970.1:n.891+5G>T
NM_001258042.2:c.771+5G>T	NP_001244971.1:n.771+5G>T
NM_001258042.3:c.771+5G>T	NP_001244971.1:n.771+5G>T
NM_001289092.1:c.729+5G>T	NP_001276021.1:n.729+5G>T
NM_001289092.2:c.729+5G>T	NP_001276021.1:n.729+5G>T
NM_001289093.1:c.609+5G>T	NP_001276022.1:n.609+5G>T
NM_001289093.2:c.609+5G>T	NP_001276022.1:n.609+5G>T
NM_001289094.1:c.864+5G>T	NP_001276023.1:n.864+5G>T
NM_001289094.2:c.864+5G>T	NP_001276023.1:n.864+5G>T
NM_002109.5:c.951+5G>T	NP_002100.2:n.951+5G>T
ENST00000307633.7:c.771+5G>T	ENSP00000304668.3:n.771+5G>T
ENST00000415192.6:c.729+5G>T	ENSP00000411085.2:n.729+5G>T
ENST00000431330.6:c.609+5G>T	ENSP00000393244.2:n.609+5G>T
ENST00000431330.7:c.609+5G>T	ENSP00000393244.2:n.609+5G>T
ENST00000438307.6:c.831+5G>T	ENSP00000411511.2:n.831+5G>T
ENST00000457527.6:c.891+5G>T	ENSP00000387893.2:n.891+5G>T
ENST00000504156.5:c.951+5G>T	ENSP00000425634.1:n.951+5G>T
ENST00000504366.5:c.744+5G>T	ENSP00000430063.1:n.744+5G>T
ENST00000506579.5:n.2008+5G>T
ENST00000506579.6:n.2176+5G>T
ENST00000507746.5:c.621+5G>T	ENSP00000425889.1:n.621+5G>T
ENST00000507746.7:c.951+5G>T	ENSP00000425889.2:n.951+5G>T
ENST00000509087.2:c.181-1851G>T	ENSP00000502781.1:n.181-1851G>T
ENST00000512396.6:c.*890+5G>T	ENSP00000421576.1:n.*890+5G>T
ENST00000643686.1:c.*1006+5G>T	ENSP00000493611.1:n.*1006+5G>T
ENST00000645491.1:c.*884+5G>T	ENSP00000494297.1:n.*884+5G>T
ENST00000646229.1:c.1002+5G>T
ENST00000674523.1:c.*241+5G>T	ENSP00000501816.1:n.*241+5G>T
ENST00000675094.1:n.2048+5G>T
ENST00000675204.1:c.951+5G>T	ENSP00000501643.1:n.951+5G>T
ENST00000675355.1:n.736+5G>T
ENST00000675366.1:c.951+5G>T	ENSP00000501747.1:n.951+5G>T
ENST00000675698.1:c.744+5G>T	ENSP00000501581.1:n.744+5G>T
ENST00000675763.1:n.2858+5G>T
ENST00000675827.1:c.*44+5G>T	ENSP00000501900.1:n.*44+5G>T
ENST00000675851.1:c.621+5G>T	ENSP00000502624.1:n.621+5G>T
ENST00000675898.1:n.2769+5G>T
ENST00000675967.1:n.2565+5G>T
ENST00000676327.1:c.843+5G>T	ENSP00000502594.1:n.843+5G>T