Canonical Allele Identifier: CA3443878

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140675114C>T , CM000667.2:g.140675114C>T	GRCh38
NC_000005.9:g.140054699C>T , CM000667.1:g.140054699C>T	GRCh37
NC_000005.8:g.140034883C>T	NCBI36
NG_032158.1:g.21273G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1214G>A MANE Select	NP_002100.2:p.Arg405Gln
ENST00000504156.7:c.1214G>A MANE Select	ENSP00000425634.1:p.Arg405Gln
NM_001258040.2:c.1094G>A	NP_001244969.1:p.Arg365Gln
NM_001258040.3:c.1094G>A	NP_001244969.1:p.Arg365Gln
NM_001258041.2:c.1154G>A	NP_001244970.1:p.Arg385Gln
NM_001258041.3:c.1154G>A	NP_001244970.1:p.Arg385Gln
NM_001258042.2:c.1034G>A	NP_001244971.1:p.Arg345Gln
NM_001258042.3:c.1034G>A	NP_001244971.1:p.Arg345Gln
NM_001289092.1:c.992G>A	NP_001276021.1:p.Arg331Gln
NM_001289092.2:c.992G>A	NP_001276021.1:p.Arg331Gln
NM_001289093.1:c.872G>A	NP_001276022.1:p.Arg291Gln
NM_001289093.2:c.872G>A	NP_001276022.1:p.Arg291Gln
NM_001289094.1:c.1127G>A	NP_001276023.1:p.Arg376Gln
NM_001289094.2:c.1127G>A	NP_001276023.1:p.Arg376Gln
NM_002109.5:c.1214G>A	NP_002100.2:p.Arg405Gln
ENST00000307633.7:c.1034G>A	ENSP00000304668.3:p.Arg345Gln
ENST00000415192.6:c.992G>A	ENSP00000411085.2:p.Arg331Gln
ENST00000431330.6:c.872G>A	ENSP00000393244.2:p.Arg291Gln
ENST00000431330.7:c.872G>A	ENSP00000393244.2:p.Arg291Gln
ENST00000438307.6:c.1094G>A	ENSP00000411511.2:p.Arg365Gln
ENST00000457527.6:c.1154G>A	ENSP00000387893.2:p.Arg385Gln
ENST00000504156.5:c.1214G>A	ENSP00000425634.1:p.Arg405Gln
ENST00000504366.5:c.1007G>A	ENSP00000430063.1:p.Arg336Gln
ENST00000506579.6:n.3959G>A
ENST00000507746.7:c.1214G>A	ENSP00000425889.2:p.Arg405Gln
ENST00000509087.1:n.220G>A
ENST00000509087.2:c.200G>A	ENSP00000502781.1:p.Arg67Gln
ENST00000512396.6:c.*1153G>A	ENSP00000421576.1:n.*1153G>A
ENST00000643686.1:c.*1269G>A	ENSP00000493611.1:n.*1269G>A
ENST00000645491.1:c.*1147G>A	ENSP00000494297.1:n.*1147G>A
ENST00000646229.1:c.1265G>A
ENST00000674523.1:c.*504G>A	ENSP00000501816.1:n.*504G>A
ENST00000675094.1:n.2311G>A
ENST00000675204.1:c.1214G>A	ENSP00000501643.1:p.Arg405Gln
ENST00000675355.1:n.999G>A
ENST00000675366.1:c.1195-289G>A	ENSP00000501747.1:n.1195-289G>A
ENST00000675698.1:c.1007G>A	ENSP00000501581.1:p.Arg336Gln
ENST00000675763.1:n.3121G>A
ENST00000675827.1:c.*307G>A	ENSP00000501900.1:n.*307G>A
ENST00000675851.1:c.884G>A	ENSP00000502624.1:p.Arg295Gln
ENST00000675898.1:n.3032G>A
ENST00000675967.1:n.2828G>A
ENST00000676327.1:c.1106G>A	ENSP00000502594.1:p.Arg369Gln