Canonical Allele Identifier: CA3443880

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140675127C>G , CM000667.2:g.140675127C>G	GRCh38
NC_000005.9:g.140054712C>G , CM000667.1:g.140054712C>G	GRCh37
NC_000005.8:g.140034896C>G	NCBI36
NG_032158.1:g.21260G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1201G>C MANE Select	NP_002100.2:p.Glu401Gln
ENST00000504156.7:c.1201G>C MANE Select	ENSP00000425634.1:p.Glu401Gln
NM_001258040.2:c.1081G>C	NP_001244969.1:p.Glu361Gln
NM_001258040.3:c.1081G>C	NP_001244969.1:p.Glu361Gln
NM_001258041.2:c.1141G>C	NP_001244970.1:p.Glu381Gln
NM_001258041.3:c.1141G>C	NP_001244970.1:p.Glu381Gln
NM_001258042.2:c.1021G>C	NP_001244971.1:p.Glu341Gln
NM_001258042.3:c.1021G>C	NP_001244971.1:p.Glu341Gln
NM_001289092.1:c.979G>C	NP_001276021.1:p.Glu327Gln
NM_001289092.2:c.979G>C	NP_001276021.1:p.Glu327Gln
NM_001289093.1:c.859G>C	NP_001276022.1:p.Glu287Gln
NM_001289093.2:c.859G>C	NP_001276022.1:p.Glu287Gln
NM_001289094.1:c.1114G>C	NP_001276023.1:p.Glu372Gln
NM_001289094.2:c.1114G>C	NP_001276023.1:p.Glu372Gln
NM_002109.5:c.1201G>C	NP_002100.2:p.Glu401Gln
ENST00000307633.7:c.1021G>C	ENSP00000304668.3:p.Glu341Gln
ENST00000415192.6:c.979G>C	ENSP00000411085.2:p.Glu327Gln
ENST00000431330.6:c.859G>C	ENSP00000393244.2:p.Glu287Gln
ENST00000431330.7:c.859G>C	ENSP00000393244.2:p.Glu287Gln
ENST00000438307.6:c.1081G>C	ENSP00000411511.2:p.Glu361Gln
ENST00000457527.6:c.1141G>C	ENSP00000387893.2:p.Glu381Gln
ENST00000504156.5:c.1201G>C	ENSP00000425634.1:p.Glu401Gln
ENST00000504366.5:c.994G>C	ENSP00000430063.1:p.Glu332Gln
ENST00000506579.6:n.3946G>C
ENST00000507746.7:c.1201G>C	ENSP00000425889.2:p.Glu401Gln
ENST00000509087.1:n.207G>C
ENST00000509087.2:c.187G>C	ENSP00000502781.1:p.Glu63Gln
ENST00000512396.6:c.*1140G>C	ENSP00000421576.1:n.*1140G>C
ENST00000643686.1:c.*1256G>C	ENSP00000493611.1:n.*1256G>C
ENST00000645491.1:c.*1134G>C	ENSP00000494297.1:n.*1134G>C
ENST00000646229.1:c.1252G>C
ENST00000674523.1:c.*491G>C	ENSP00000501816.1:n.*491G>C
ENST00000675094.1:n.2298G>C
ENST00000675204.1:c.1201G>C	ENSP00000501643.1:p.Glu401Gln
ENST00000675355.1:n.986G>C
ENST00000675366.1:c.1195-302G>C	ENSP00000501747.1:n.1195-302G>C
ENST00000675698.1:c.994G>C	ENSP00000501581.1:p.Glu332Gln
ENST00000675763.1:n.3108G>C
ENST00000675827.1:c.*294G>C	ENSP00000501900.1:n.*294G>C
ENST00000675851.1:c.871G>C	ENSP00000502624.1:p.Glu291Gln
ENST00000675898.1:n.3019G>C
ENST00000675967.1:n.2815G>C
ENST00000676327.1:c.1093G>C	ENSP00000502594.1:p.Glu365Gln