Canonical Allele Identifier: CA3443833

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140674744T>G , CM000667.2:g.140674744T>G	GRCh38
NC_000005.9:g.140054329T>G , CM000667.1:g.140054329T>G	GRCh37
NC_000005.8:g.140034513T>G	NCBI36
NG_032158.1:g.21643A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1393A>C MANE Select	NP_002100.2:p.Ile465Leu
ENST00000504156.7:c.1393A>C MANE Select	ENSP00000425634.1:p.Ile465Leu
NM_001258040.2:c.1273A>C	NP_001244969.1:p.Ile425Leu
NM_001258040.3:c.1273A>C	NP_001244969.1:p.Ile425Leu
NM_001258041.2:c.1333A>C	NP_001244970.1:p.Ile445Leu
NM_001258041.3:c.1333A>C	NP_001244970.1:p.Ile445Leu
NM_001258042.2:c.1213A>C	NP_001244971.1:p.Ile405Leu
NM_001258042.3:c.1213A>C	NP_001244971.1:p.Ile405Leu
NM_001289092.1:c.1171A>C	NP_001276021.1:p.Ile391Leu
NM_001289092.2:c.1171A>C	NP_001276021.1:p.Ile391Leu
NM_001289093.1:c.1051A>C	NP_001276022.1:p.Ile351Leu
NM_001289093.2:c.1051A>C	NP_001276022.1:p.Ile351Leu
NM_001289094.1:c.1306A>C	NP_001276023.1:p.Ile436Leu
NM_001289094.2:c.1306A>C	NP_001276023.1:p.Ile436Leu
NM_002109.5:c.1393A>C	NP_002100.2:p.Ile465Leu
ENST00000307633.7:c.1213A>C	ENSP00000304668.3:p.Ile405Leu
ENST00000415192.6:c.1171A>C	ENSP00000411085.2:p.Ile391Leu
ENST00000431330.6:c.1051A>C	ENSP00000393244.2:p.Ile351Leu
ENST00000431330.7:c.1051A>C	ENSP00000393244.2:p.Ile351Leu
ENST00000438307.6:c.1273A>C	ENSP00000411511.2:p.Ile425Leu
ENST00000457527.6:c.1333A>C	ENSP00000387893.2:p.Ile445Leu
ENST00000504156.5:c.1393A>C	ENSP00000425634.1:p.Ile465Leu
ENST00000504366.5:c.1186A>C	ENSP00000430063.1:p.Ile396Leu
ENST00000506579.6:n.4138A>C
ENST00000507746.7:c.1393A>C	ENSP00000425889.2:p.Ile465Leu
ENST00000509087.1:n.399A>C
ENST00000509087.2:c.379A>C	ENSP00000502781.1:p.Ile127Leu
ENST00000512396.6:c.*1332A>C	ENSP00000421576.1:n.*1332A>C
ENST00000643686.1:c.*1448A>C	ENSP00000493611.1:n.*1448A>C
ENST00000645491.1:c.*1326A>C	ENSP00000494297.1:n.*1326A>C
ENST00000646229.1:c.1444A>C
ENST00000674523.1:c.*683A>C	ENSP00000501816.1:n.*683A>C
ENST00000675094.1:n.2490A>C
ENST00000675204.1:c.1393A>C	ENSP00000501643.1:p.Ile465Leu
ENST00000675355.1:n.1178A>C
ENST00000675366.1:c.1276A>C	ENSP00000501747.1:p.Ile426Leu
ENST00000675698.1:c.1186A>C	ENSP00000501581.1:p.Ile396Leu
ENST00000675763.1:n.3300A>C
ENST00000675827.1:c.*486A>C	ENSP00000501900.1:n.*486A>C
ENST00000675851.1:c.1063A>C	ENSP00000502624.1:p.Ile355Leu
ENST00000675898.1:n.3211A>C
ENST00000675967.1:n.3007A>C
ENST00000676327.1:c.1285A>C	ENSP00000502594.1:p.Ile429Leu