Canonical Allele Identifier: CA3443925

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140676743T>C , CM000667.2:g.140676743T>C	GRCh38
NC_000005.9:g.140056328T>C , CM000667.1:g.140056328T>C	GRCh37
NC_000005.8:g.140036512T>C	NCBI36
NG_032158.1:g.19644A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1105A>G MANE Select	NP_002100.2:p.Met369Val
ENST00000504156.7:c.1105A>G MANE Select	ENSP00000425634.1:p.Met369Val
NM_001258040.2:c.985A>G	NP_001244969.1:p.Met329Val
NM_001258040.3:c.985A>G	NP_001244969.1:p.Met329Val
NM_001258041.2:c.1045A>G	NP_001244970.1:p.Met349Val
NM_001258041.3:c.1045A>G	NP_001244970.1:p.Met349Val
NM_001258042.2:c.925A>G	NP_001244971.1:p.Met309Val
NM_001258042.3:c.925A>G	NP_001244971.1:p.Met309Val
NM_001289092.1:c.883A>G	NP_001276021.1:p.Met295Val
NM_001289092.2:c.883A>G	NP_001276021.1:p.Met295Val
NM_001289093.1:c.763A>G	NP_001276022.1:p.Met255Val
NM_001289093.2:c.763A>G	NP_001276022.1:p.Met255Val
NM_001289094.1:c.1018A>G	NP_001276023.1:p.Met340Val
NM_001289094.2:c.1018A>G	NP_001276023.1:p.Met340Val
NM_002109.5:c.1105A>G	NP_002100.2:p.Met369Val
ENST00000307633.7:c.925A>G	ENSP00000304668.3:p.Met309Val
ENST00000415192.6:c.883A>G	ENSP00000411085.2:p.Met295Val
ENST00000431330.6:c.763A>G	ENSP00000393244.2:p.Met255Val
ENST00000431330.7:c.763A>G	ENSP00000393244.2:p.Met255Val
ENST00000438307.6:c.985A>G	ENSP00000411511.2:p.Met329Val
ENST00000457527.6:c.1045A>G	ENSP00000387893.2:p.Met349Val
ENST00000504156.5:c.1105A>G	ENSP00000425634.1:p.Met369Val
ENST00000504366.5:c.898A>G	ENSP00000430063.1:p.Met300Val
ENST00000506579.5:n.2162A>G
ENST00000506579.6:n.2330A>G
ENST00000507746.5:c.775A>G	ENSP00000425889.1:p.Met259Val
ENST00000507746.7:c.1105A>G	ENSP00000425889.2:p.Met369Val
ENST00000509087.2:c.181-1610A>G	ENSP00000502781.1:n.181-1610A>G
ENST00000512396.6:c.*1044A>G	ENSP00000421576.1:n.*1044A>G
ENST00000643686.1:c.*1160A>G	ENSP00000493611.1:n.*1160A>G
ENST00000645491.1:c.*1038A>G	ENSP00000494297.1:n.*1038A>G
ENST00000646229.1:c.1156A>G
ENST00000674523.1:c.*395A>G	ENSP00000501816.1:n.*395A>G
ENST00000675094.1:n.2202A>G
ENST00000675204.1:c.1105A>G	ENSP00000501643.1:p.Met369Val
ENST00000675355.1:n.890A>G
ENST00000675366.1:c.1105A>G	ENSP00000501747.1:p.Met369Val
ENST00000675698.1:c.898A>G	ENSP00000501581.1:p.Met300Val
ENST00000675763.1:n.3012A>G
ENST00000675827.1:c.*198A>G	ENSP00000501900.1:n.*198A>G
ENST00000675851.1:c.775A>G	ENSP00000502624.1:p.Met259Val
ENST00000675898.1:n.2923A>G
ENST00000675967.1:n.2719A>G
ENST00000676327.1:c.997A>G	ENSP00000502594.1:p.Met333Val