Canonical Allele Identifier: CA361191603

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140691214C>G , CM000667.2:g.140691214C>G	GRCh38
NC_000005.9:g.140070799C>G , CM000667.1:g.140070799C>G	GRCh37
NC_000005.8:g.140050983C>G	NCBI36
NG_021415.1:g.4782C>G
NG_032158.1:g.5173G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.90+1G>C MANE Select	NP_002100.2:n.90+1G>C
ENST00000504156.7:c.90+1G>C MANE Select	ENSP00000425634.1:n.90+1G>C
NM_001258040.2:c.90+1G>C	NP_001244969.1:n.90+1G>C
NM_001258040.3:c.90+1G>C	NP_001244969.1:n.90+1G>C
NM_001258041.2:c.90+1G>C	NP_001244970.1:n.90+1G>C
NM_001258041.3:c.90+1G>C	NP_001244970.1:n.90+1G>C
NM_001258042.2:c.90+1G>C	NP_001244971.1:n.90+1G>C
NM_001258042.3:c.90+1G>C	NP_001244971.1:n.90+1G>C
NM_001289092.1:c.90+1G>C	NP_001276021.1:n.90+1G>C
NM_001289092.2:c.90+1G>C	NP_001276021.1:n.90+1G>C
NM_001289093.1:c.90+1G>C	NP_001276022.1:n.90+1G>C
NM_001289093.2:c.90+1G>C	NP_001276022.1:n.90+1G>C
NM_001289094.1:c.3+88G>C	NP_001276023.1:n.3+88G>C
NM_001289094.2:c.3+88G>C	NP_001276023.1:n.3+88G>C
NM_002109.5:c.90+1G>C	NP_002100.2:n.90+1G>C
ENST00000307633.7:c.90+1G>C	ENSP00000304668.3:n.90+1G>C
ENST00000415192.6:c.90+1G>C	ENSP00000411085.2:n.90+1G>C
ENST00000431330.6:c.90+1G>C	ENSP00000393244.2:n.90+1G>C
ENST00000431330.7:c.90+1G>C	ENSP00000393244.2:n.90+1G>C
ENST00000438307.6:c.90+1G>C	ENSP00000411511.2:n.90+1G>C
ENST00000457527.6:c.90+1G>C	ENSP00000387893.2:n.90+1G>C
ENST00000502888.1:n.82+1G>C
ENST00000502888.2:n.139+1G>C
ENST00000504156.5:c.90+1G>C	ENSP00000425634.1:n.90+1G>C
ENST00000506579.5:n.127+1G>C
ENST00000506579.6:n.175+1G>C
ENST00000507746.5:c.90+1G>C	ENSP00000425889.1:n.90+1G>C
ENST00000507746.7:c.90+1G>C	ENSP00000425889.2:n.90+1G>C
ENST00000509087.2:c.90+1G>C	ENSP00000502781.1:n.90+1G>C
ENST00000512396.5:c.90+1G>C	ENSP00000421576.1:n.90+1G>C
ENST00000512396.6:c.90+1G>C	ENSP00000421576.1:n.90+1G>C
ENST00000518126.5:n.125+1G>C
ENST00000518126.6:n.129+1G>C
ENST00000643686.1:c.90+1G>C	ENSP00000493611.1:n.90+1G>C
ENST00000645491.1:c.90+1G>C	ENSP00000494297.1:n.90+1G>C
ENST00000646229.1:c.22+1G>C
ENST00000674523.1:c.90+1G>C	ENSP00000501816.1:n.90+1G>C
ENST00000674721.1:n.191+1G>C
ENST00000674819.1:n.163+1G>C
ENST00000675094.1:n.175+1G>C
ENST00000675204.1:c.90+1G>C	ENSP00000501643.1:n.90+1G>C
ENST00000675366.1:c.90+1G>C	ENSP00000501747.1:n.90+1G>C
ENST00000675698.1:c.3+88G>C	ENSP00000501581.1:n.3+88G>C
ENST00000675827.1:c.90+1G>C	ENSP00000501900.1:n.90+1G>C
ENST00000675851.1:c.90+1G>C	ENSP00000502624.1:n.90+1G>C
ENST00000676327.1:c.90+1G>C	ENSP00000502594.1:n.90+1G>C