Canonical Allele Identifier: CA3443801

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140674325C>T , CM000667.2:g.140674325C>T	GRCh38
NC_000005.9:g.140053910C>T , CM000667.1:g.140053910C>T	GRCh37
NC_000005.8:g.140034094C>T	NCBI36
NG_032158.1:g.22062G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1462G>A MANE Select	NP_002100.2:p.Asp488Asn
ENST00000504156.7:c.1462G>A MANE Select	ENSP00000425634.1:p.Asp488Asn
NM_001258040.2:c.1342G>A	NP_001244969.1:p.Asp448Asn
NM_001258040.3:c.1342G>A	NP_001244969.1:p.Asp448Asn
NM_001258041.2:c.1402G>A	NP_001244970.1:p.Asp468Asn
NM_001258041.3:c.1402G>A	NP_001244970.1:p.Asp468Asn
NM_001258042.2:c.1282G>A	NP_001244971.1:p.Asp428Asn
NM_001258042.3:c.1282G>A	NP_001244971.1:p.Asp428Asn
NM_001289092.1:c.1240G>A	NP_001276021.1:p.Asp414Asn
NM_001289092.2:c.1240G>A	NP_001276021.1:p.Asp414Asn
NM_001289093.1:c.1120G>A	NP_001276022.1:p.Asp374Asn
NM_001289093.2:c.1120G>A	NP_001276022.1:p.Asp374Asn
NM_001289094.1:c.1375G>A	NP_001276023.1:p.Asp459Asn
NM_001289094.2:c.1375G>A	NP_001276023.1:p.Asp459Asn
NM_002109.5:c.1462G>A	NP_002100.2:p.Asp488Asn
ENST00000307633.7:c.1282G>A	ENSP00000304668.3:p.Asp428Asn
ENST00000415192.6:c.1240G>A	ENSP00000411085.2:p.Asp414Asn
ENST00000431330.6:c.1120G>A	ENSP00000393244.2:p.Asp374Asn
ENST00000431330.7:c.1120G>A	ENSP00000393244.2:p.Asp374Asn
ENST00000438307.6:c.1342G>A	ENSP00000411511.2:p.Asp448Asn
ENST00000457527.6:c.1402G>A	ENSP00000387893.2:p.Asp468Asn
ENST00000504156.5:c.1462G>A	ENSP00000425634.1:p.Asp488Asn
ENST00000504366.5:c.1255G>A	ENSP00000430063.1:p.Asp419Asn
ENST00000506579.6:n.4207G>A
ENST00000507746.7:c.1471G>A	ENSP00000425889.2:p.Asp491Asn
ENST00000509087.1:n.468G>A
ENST00000509087.2:c.448G>A	ENSP00000502781.1:p.Asp150Asn
ENST00000512396.6:c.*1401G>A	ENSP00000421576.1:n.*1401G>A
ENST00000643686.1:c.*1517G>A	ENSP00000493611.1:n.*1517G>A
ENST00000645491.1:c.*1395G>A	ENSP00000494297.1:n.*1395G>A
ENST00000646229.1:c.1513G>A
ENST00000674523.1:c.*752G>A	ENSP00000501816.1:n.*752G>A
ENST00000675094.1:n.2559G>A
ENST00000675204.1:c.*276G>A	ENSP00000501643.1:n.*276G>A
ENST00000675355.1:n.1247G>A
ENST00000675366.1:c.1345G>A	ENSP00000501747.1:p.Asp449Asn
ENST00000675698.1:c.1255G>A	ENSP00000501581.1:p.Asp419Asn
ENST00000675763.1:n.3369G>A
ENST00000675827.1:c.*555G>A	ENSP00000501900.1:n.*555G>A
ENST00000675851.1:c.1132G>A	ENSP00000502624.1:p.Asp378Asn
ENST00000675898.1:n.3280G>A
ENST00000675967.1:n.3076G>A
ENST00000676327.1:c.1354G>A	ENSP00000502594.1:p.Asp452Asn