Canonical Allele Identifier: CA3444027
Community Standard Title: NM_002109.6(HARS1):c.653A>G (p.Asp218Gly)
Gene: HARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140677731T>C , CM000667.2:g.140677731T>C GRCh38
NC_000005.9:g.140057316T>C , CM000667.1:g.140057316T>C GRCh37
NC_000005.8:g.140037500T>C NCBI36
NG_032158.1:g.18656A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002109.6:c.653A>G MANE Select NP_002100.2:p.Asp218Gly
ENST00000504156.7:c.653A>G MANE Select ENSP00000425634.1:p.Asp218Gly
NM_001258040.2:c.533A>G NP_001244969.1:p.Asp178Gly
NM_001258040.3:c.533A>G NP_001244969.1:p.Asp178Gly
NM_001258041.2:c.593A>G NP_001244970.1:p.Asp198Gly
NM_001258041.3:c.593A>G NP_001244970.1:p.Asp198Gly
NM_001258042.2:c.473A>G NP_001244971.1:p.Asp158Gly
NM_001258042.3:c.473A>G NP_001244971.1:p.Asp158Gly
NM_001289092.1:c.431A>G NP_001276021.1:p.Asp144Gly
NM_001289092.2:c.431A>G NP_001276021.1:p.Asp144Gly
NM_001289093.1:c.311A>G NP_001276022.1:p.Asp104Gly
NM_001289093.2:c.311A>G NP_001276022.1:p.Asp104Gly
NM_001289094.1:c.566A>G NP_001276023.1:p.Asp189Gly
NM_001289094.2:c.566A>G NP_001276023.1:p.Asp189Gly
NM_002109.5:c.653A>G NP_002100.2:p.Asp218Gly
ENST00000307633.7:c.473A>G ENSP00000304668.3:p.Asp158Gly
ENST00000415192.6:c.431A>G ENSP00000411085.2:p.Asp144Gly
ENST00000431330.6:c.311A>G ENSP00000393244.2:p.Asp104Gly
ENST00000431330.7:c.311A>G ENSP00000393244.2:p.Asp104Gly
ENST00000438307.6:c.533A>G ENSP00000411511.2:p.Asp178Gly
ENST00000457527.6:c.593A>G ENSP00000387893.2:p.Asp198Gly
ENST00000504156.5:c.653A>G ENSP00000425634.1:p.Asp218Gly
ENST00000504366.5:c.446A>G ENSP00000430063.1:p.Asp149Gly
ENST00000506579.5:n.1710A>G
ENST00000506579.6:n.1878A>G
ENST00000507746.5:c.323A>G ENSP00000425889.1:p.Asp108Gly
ENST00000507746.7:c.653A>G ENSP00000425889.2:p.Asp218Gly
ENST00000509087.2:c.181-2598A>G ENSP00000502781.1:n.181-2598A>G
ENST00000512396.6:c.*592A>G ENSP00000421576.1:n.*592A>G
ENST00000643686.1:c.*708A>G ENSP00000493611.1:n.*708A>G
ENST00000645491.1:c.*586A>G ENSP00000494297.1:n.*586A>G
ENST00000646229.1:c.704A>G
ENST00000674523.1:c.653A>G ENSP00000501816.1:p.Asp218Gly
ENST00000675094.1:n.1724A>G
ENST00000675204.1:c.653A>G ENSP00000501643.1:p.Asp218Gly
ENST00000675355.1:n.438A>G
ENST00000675366.1:c.653A>G ENSP00000501747.1:p.Asp218Gly
ENST00000675698.1:c.446A>G ENSP00000501581.1:p.Asp149Gly
ENST00000675763.1:n.2560A>G
ENST00000675827.1:c.653A>G ENSP00000501900.1:p.Asp218Gly
ENST00000675851.1:c.323A>G ENSP00000502624.1:p.Asp108Gly
ENST00000675898.1:n.2471A>G
ENST00000675967.1:n.2267A>G
ENST00000676327.1:c.545A>G ENSP00000502594.1:p.Asp182Gly