Canonical Allele Identifier: CA3444024

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677705A>C , CM000667.2:g.140677705A>C	GRCh38
NC_000005.9:g.140057290A>C , CM000667.1:g.140057290A>C	GRCh37
NC_000005.8:g.140037474A>C	NCBI36
NG_032158.1:g.18682T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431330.7:c.337T>G	ENSP00000393244.2:p.Ser113Ala
ENST00000504156.7:c.679T>G MANE Select	ENSP00000425634.1:p.Ser227Ala
ENST00000506579.6:n.1904T>G
ENST00000507746.7:c.679T>G	ENSP00000425889.2:p.Ser227Ala
ENST00000509087.2:c.181-2572T>G	ENSP00000502781.1:n.181-2572T>G
ENST00000512396.6:c.*618T>G	ENSP00000421576.1:n.*618T>G
ENST00000643686.1:c.*734T>G	ENSP00000493611.1:n.*734T>G
ENST00000645491.1:c.*612T>G	ENSP00000494297.1:n.*612T>G
ENST00000646229.1:c.730T>G
ENST00000674523.1:c.679T>G	ENSP00000501816.1:p.Ser227Ala
ENST00000675094.1:n.1750T>G
ENST00000675204.1:c.679T>G	ENSP00000501643.1:p.Ser227Ala
ENST00000675355.1:n.464T>G
ENST00000675366.1:c.679T>G	ENSP00000501747.1:p.Ser227Ala
ENST00000675698.1:c.472T>G	ENSP00000501581.1:p.Ser158Ala
ENST00000675763.1:n.2586T>G
ENST00000675827.1:c.679T>G	ENSP00000501900.1:p.Ser227Ala
ENST00000675851.1:c.349T>G	ENSP00000502624.1:p.Ser117Ala
ENST00000675898.1:n.2497T>G
ENST00000675967.1:n.2293T>G
ENST00000676327.1:c.571T>G	ENSP00000502594.1:p.Ser191Ala
ENST00000307633.7:c.499T>G	ENSP00000304668.3:p.Ser167Ala
ENST00000415192.6:c.457T>G	ENSP00000411085.2:p.Ser153Ala
ENST00000431330.6:c.337T>G	ENSP00000393244.2:p.Ser113Ala
ENST00000438307.6:c.559T>G	ENSP00000411511.2:p.Ser187Ala
ENST00000457527.6:c.619T>G	ENSP00000387893.2:p.Ser207Ala
ENST00000504156.5:c.679T>G	ENSP00000425634.1:p.Ser227Ala
ENST00000504366.5:c.472T>G	ENSP00000430063.1:p.Ser158Ala
ENST00000506579.5:n.1736T>G
ENST00000507746.5:c.349T>G	ENSP00000425889.1:p.Ser117Ala
NM_001258040.2:c.559T>G	NP_001244969.1:p.Ser187Ala
NM_001258041.2:c.619T>G	NP_001244970.1:p.Ser207Ala
NM_001258042.2:c.499T>G	NP_001244971.1:p.Ser167Ala
NM_001289092.1:c.457T>G	NP_001276021.1:p.Ser153Ala
NM_001289093.1:c.337T>G	NP_001276022.1:p.Ser113Ala
NM_001289094.1:c.592T>G	NP_001276023.1:p.Ser198Ala
NM_002109.5:c.679T>G	NP_002100.2:p.Ser227Ala
NM_002109.6:c.679T>G MANE Select	NP_002100.2:p.Ser227Ala
NM_001258040.3:c.559T>G	NP_001244969.1:p.Ser187Ala
NM_001258041.3:c.619T>G	NP_001244970.1:p.Ser207Ala
NM_001258042.3:c.499T>G	NP_001244971.1:p.Ser167Ala
NM_001289092.2:c.457T>G	NP_001276021.1:p.Ser153Ala
NM_001289093.2:c.337T>G	NP_001276022.1:p.Ser113Ala
NM_001289094.2:c.592T>G	NP_001276023.1:p.Ser198Ala