Canonical Allele Identifier: CA3444132

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140679839A>T , CM000667.2:g.140679839A>T	GRCh38
NC_000005.9:g.140059424A>T , CM000667.1:g.140059424A>T	GRCh37
NC_000005.8:g.140039608A>T	NCBI36
NG_032158.1:g.16548T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.345T>A MANE Select	NP_002100.2:p.Tyr115Ter
ENST00000504156.7:c.345T>A MANE Select	ENSP00000425634.1:p.Tyr115Ter
NM_001258040.2:c.225T>A	NP_001244969.1:p.Tyr75Ter
NM_001258040.3:c.225T>A	NP_001244969.1:p.Tyr75Ter
NM_001258041.2:c.345T>A	NP_001244970.1:p.Tyr115Ter
NM_001258041.3:c.345T>A	NP_001244970.1:p.Tyr115Ter
NM_001258042.2:c.225T>A	NP_001244971.1:p.Tyr75Ter
NM_001258042.3:c.225T>A	NP_001244971.1:p.Tyr75Ter
NM_001289092.1:c.301-1824T>A	NP_001276021.1:n.301-1824T>A
NM_001289092.2:c.301-1824T>A	NP_001276021.1:n.301-1824T>A
NM_001289093.1:c.181-1824T>A	NP_001276022.1:n.181-1824T>A
NM_001289093.2:c.181-1824T>A	NP_001276022.1:n.181-1824T>A
NM_001289094.1:c.258T>A	NP_001276023.1:p.Tyr86Ter
NM_001289094.2:c.258T>A	NP_001276023.1:p.Tyr86Ter
NM_002109.5:c.345T>A	NP_002100.2:p.Tyr115Ter
ENST00000307633.7:c.225T>A	ENSP00000304668.3:p.Tyr75Ter
ENST00000415192.6:c.301-1824T>A	ENSP00000411085.2:n.301-1824T>A
ENST00000431330.6:c.181-1824T>A	ENSP00000393244.2:n.181-1824T>A
ENST00000431330.7:c.181-1824T>A	ENSP00000393244.2:n.181-1824T>A
ENST00000438307.6:c.225T>A	ENSP00000411511.2:p.Tyr75Ter
ENST00000457527.6:c.345T>A	ENSP00000387893.2:p.Tyr115Ter
ENST00000504156.5:c.345T>A	ENSP00000425634.1:p.Tyr115Ter
ENST00000504366.5:c.138T>A	ENSP00000430063.1:p.Tyr46Ter
ENST00000506579.5:n.262T>A
ENST00000506579.6:n.430T>A
ENST00000507746.5:c.301-2086T>A	ENSP00000425889.1:n.301-2086T>A
ENST00000507746.7:c.345T>A	ENSP00000425889.2:p.Tyr115Ter
ENST00000509087.2:c.181-4706T>A	ENSP00000502781.1:n.181-4706T>A
ENST00000512396.5:c.*284T>A	ENSP00000421576.1:n.*284T>A
ENST00000512396.6:c.*284T>A	ENSP00000421576.1:n.*284T>A
ENST00000518126.5:n.380T>A
ENST00000518126.6:n.384T>A
ENST00000643686.1:c.*400T>A	ENSP00000493611.1:n.*400T>A
ENST00000645491.1:c.*278T>A	ENSP00000494297.1:n.*278T>A
ENST00000646229.1:c.396T>A
ENST00000674523.1:c.345T>A	ENSP00000501816.1:p.Tyr115Ter
ENST00000675094.1:n.430T>A
ENST00000675204.1:c.345T>A	ENSP00000501643.1:p.Tyr115Ter
ENST00000675355.1:n.190T>A
ENST00000675366.1:c.345T>A	ENSP00000501747.1:p.Tyr115Ter
ENST00000675698.1:c.138T>A	ENSP00000501581.1:p.Tyr46Ter
ENST00000675763.1:n.1266T>A
ENST00000675827.1:c.345T>A	ENSP00000501900.1:p.Tyr115Ter
ENST00000675851.1:c.301-2086T>A	ENSP00000502624.1:n.301-2086T>A
ENST00000675898.1:n.517T>A
ENST00000675967.1:n.819T>A
ENST00000676327.1:c.345T>A	ENSP00000502594.1:p.Tyr115Ter