Canonical Allele Identifier: CA361256011

Gene: HARS1

Linked Data

• MyVariant Identifiers: chr5:g.140057598A>T (hg19) ; chr5:g.140678013A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140678013A>T , CM000667.2:g.140678013A>T	GRCh38
NC_000005.9:g.140057598A>T , CM000667.1:g.140057598A>T	GRCh37
NC_000005.8:g.140037782A>T	NCBI36
NG_032158.1:g.18374T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431330.7:c.183T>A	ENSP00000393244.2:p.Asp61Glu
ENST00000504156.7:c.525T>A MANE Select	ENSP00000425634.1:p.Asp175Glu
ENST00000506579.6:n.1596T>A
ENST00000507746.7:c.525T>A	ENSP00000425889.2:p.Asp175Glu
ENST00000509087.2:c.181-2880T>A	ENSP00000502781.1:n.181-2880T>A
ENST00000512396.6:c.*464T>A	ENSP00000421576.1:n.*464T>A
ENST00000643686.1:c.*580T>A	ENSP00000493611.1:n.*580T>A
ENST00000645491.1:c.*458T>A	ENSP00000494297.1:n.*458T>A
ENST00000646229.1:c.576T>A
ENST00000674523.1:c.525T>A	ENSP00000501816.1:p.Asp175Glu
ENST00000675094.1:n.1596T>A
ENST00000675204.1:c.525T>A	ENSP00000501643.1:p.Asp175Glu
ENST00000675355.1:n.310T>A
ENST00000675366.1:c.525T>A	ENSP00000501747.1:p.Asp175Glu
ENST00000675698.1:c.318T>A	ENSP00000501581.1:p.Asp106Glu
ENST00000675763.1:n.2432T>A
ENST00000675827.1:c.525T>A	ENSP00000501900.1:p.Asp175Glu
ENST00000675851.1:c.301-260T>A	ENSP00000502624.1:n.301-260T>A
ENST00000675898.1:n.2343T>A
ENST00000675967.1:n.1985T>A
ENST00000676327.1:c.523-260T>A	ENSP00000502594.1:n.523-260T>A
ENST00000307633.7:c.345T>A	ENSP00000304668.3:p.Asp115Glu
ENST00000415192.6:c.303T>A	ENSP00000411085.2:p.Asp101Glu
ENST00000431330.6:c.183T>A	ENSP00000393244.2:p.Asp61Glu
ENST00000438307.6:c.405T>A	ENSP00000411511.2:p.Asp135Glu
ENST00000457527.6:c.465T>A	ENSP00000387893.2:p.Asp155Glu
ENST00000504156.5:c.525T>A	ENSP00000425634.1:p.Asp175Glu
ENST00000504366.5:c.318T>A	ENSP00000430063.1:p.Asp106Glu
ENST00000506579.5:n.1428T>A
ENST00000507746.5:c.301-260T>A	ENSP00000425889.1:n.301-260T>A
NM_001258040.2:c.405T>A	NP_001244969.1:p.Asp135Glu
NM_001258041.2:c.465T>A	NP_001244970.1:p.Asp155Glu
NM_001258042.2:c.345T>A	NP_001244971.1:p.Asp115Glu
NM_001289092.1:c.303T>A	NP_001276021.1:p.Asp101Glu
NM_001289093.1:c.183T>A	NP_001276022.1:p.Asp61Glu
NM_001289094.1:c.438T>A	NP_001276023.1:p.Asp146Glu
NM_002109.5:c.525T>A	NP_002100.2:p.Asp175Glu
NM_002109.6:c.525T>A MANE Select	NP_002100.2:p.Asp175Glu
NM_001258040.3:c.405T>A	NP_001244969.1:p.Asp135Glu
NM_001258041.3:c.465T>A	NP_001244970.1:p.Asp155Glu
NM_001258042.3:c.345T>A	NP_001244971.1:p.Asp115Glu
NM_001289092.2:c.303T>A	NP_001276021.1:p.Asp101Glu
NM_001289093.2:c.183T>A	NP_001276022.1:p.Asp61Glu
NM_001289094.2:c.438T>A	NP_001276023.1:p.Asp146Glu