Canonical Allele Identifier: CA361253666

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677339C>G , CM000667.2:g.140677339C>G	GRCh38
NC_000005.9:g.140056924C>G , CM000667.1:g.140056924C>G	GRCh37
NC_000005.8:g.140037108C>G	NCBI36
NG_032158.1:g.19048G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431330.7:c.469G>C	ENSP00000393244.2:p.Val157Leu
ENST00000504156.7:c.811G>C MANE Select	ENSP00000425634.1:p.Val271Leu
ENST00000506579.6:n.2036G>C
ENST00000507746.7:c.811G>C	ENSP00000425889.2:p.Val271Leu
ENST00000509087.2:c.181-2206G>C	ENSP00000502781.1:n.181-2206G>C
ENST00000512396.6:c.*750G>C	ENSP00000421576.1:n.*750G>C
ENST00000643686.1:c.*866G>C	ENSP00000493611.1:n.*866G>C
ENST00000645491.1:c.*744G>C	ENSP00000494297.1:n.*744G>C
ENST00000646229.1:c.862G>C
ENST00000674523.1:c.*101G>C	ENSP00000501816.1:n.*101G>C
ENST00000675094.1:n.1882G>C
ENST00000675204.1:c.811G>C	ENSP00000501643.1:p.Val271Leu
ENST00000675355.1:n.596G>C
ENST00000675366.1:c.811G>C	ENSP00000501747.1:p.Val271Leu
ENST00000675698.1:c.604G>C	ENSP00000501581.1:p.Val202Leu
ENST00000675763.1:n.2718G>C
ENST00000675827.1:c.730-223G>C	ENSP00000501900.1:n.730-223G>C
ENST00000675851.1:c.481G>C	ENSP00000502624.1:p.Val161Leu
ENST00000675898.1:n.2629G>C
ENST00000675967.1:n.2425G>C
ENST00000676327.1:c.703G>C	ENSP00000502594.1:p.Val235Leu
ENST00000307633.7:c.631G>C	ENSP00000304668.3:p.Val211Leu
ENST00000415192.6:c.589G>C	ENSP00000411085.2:p.Val197Leu
ENST00000431330.6:c.469G>C	ENSP00000393244.2:p.Val157Leu
ENST00000438307.6:c.691G>C	ENSP00000411511.2:p.Val231Leu
ENST00000457527.6:c.751G>C	ENSP00000387893.2:p.Val251Leu
ENST00000504156.5:c.811G>C	ENSP00000425634.1:p.Val271Leu
ENST00000504366.5:c.604G>C	ENSP00000430063.1:p.Val202Leu
ENST00000506579.5:n.1868G>C
ENST00000507746.5:c.481G>C	ENSP00000425889.1:p.Val161Leu
NM_001258040.2:c.691G>C	NP_001244969.1:p.Val231Leu
NM_001258041.2:c.751G>C	NP_001244970.1:p.Val251Leu
NM_001258042.2:c.631G>C	NP_001244971.1:p.Val211Leu
NM_001289092.1:c.589G>C	NP_001276021.1:p.Val197Leu
NM_001289093.1:c.469G>C	NP_001276022.1:p.Val157Leu
NM_001289094.1:c.724G>C	NP_001276023.1:p.Val242Leu
NM_002109.5:c.811G>C	NP_002100.2:p.Val271Leu
NM_002109.6:c.811G>C MANE Select	NP_002100.2:p.Val271Leu
NM_001258040.3:c.691G>C	NP_001244969.1:p.Val231Leu
NM_001258041.3:c.751G>C	NP_001244970.1:p.Val251Leu
NM_001258042.3:c.631G>C	NP_001244971.1:p.Val211Leu
NM_001289092.2:c.589G>C	NP_001276021.1:p.Val197Leu
NM_001289093.2:c.469G>C	NP_001276022.1:p.Val157Leu
NM_001289094.2:c.724G>C	NP_001276023.1:p.Val242Leu