Canonical Allele Identifier: CA3444058

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140677923G>A , CM000667.2:g.140677923G>A	GRCh38
NC_000005.9:g.140057508G>A , CM000667.1:g.140057508G>A	GRCh37
NC_000005.8:g.140037692G>A	NCBI36
NG_032158.1:g.18464C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.615C>T MANE Select	NP_002100.2:p.Gly205=
ENST00000504156.7:c.615C>T MANE Select	ENSP00000425634.1:p.Gly205=
NM_001258040.2:c.495C>T	NP_001244969.1:p.Gly165=
NM_001258040.3:c.495C>T	NP_001244969.1:p.Gly165=
NM_001258041.2:c.555C>T	NP_001244970.1:p.Gly185=
NM_001258041.3:c.555C>T	NP_001244970.1:p.Gly185=
NM_001258042.2:c.435C>T	NP_001244971.1:p.Gly145=
NM_001258042.3:c.435C>T	NP_001244971.1:p.Gly145=
NM_001289092.1:c.393C>T	NP_001276021.1:p.Gly131=
NM_001289092.2:c.393C>T	NP_001276021.1:p.Gly131=
NM_001289093.1:c.273C>T	NP_001276022.1:p.Gly91=
NM_001289093.2:c.273C>T	NP_001276022.1:p.Gly91=
NM_001289094.1:c.528C>T	NP_001276023.1:p.Gly176=
NM_001289094.2:c.528C>T	NP_001276023.1:p.Gly176=
NM_002109.5:c.615C>T	NP_002100.2:p.Gly205=
ENST00000307633.7:c.435C>T	ENSP00000304668.3:p.Gly145=
ENST00000415192.6:c.393C>T	ENSP00000411085.2:p.Gly131=
ENST00000431330.6:c.273C>T	ENSP00000393244.2:p.Gly91=
ENST00000431330.7:c.273C>T	ENSP00000393244.2:p.Gly91=
ENST00000438307.6:c.495C>T	ENSP00000411511.2:p.Gly165=
ENST00000457527.6:c.555C>T	ENSP00000387893.2:p.Gly185=
ENST00000504156.5:c.615C>T	ENSP00000425634.1:p.Gly205=
ENST00000504366.5:c.408C>T	ENSP00000430063.1:p.Gly136=
ENST00000506579.5:n.1518C>T
ENST00000506579.6:n.1686C>T
ENST00000507746.5:c.301-170C>T	ENSP00000425889.1:n.301-170C>T
ENST00000507746.7:c.615C>T	ENSP00000425889.2:p.Gly205=
ENST00000509087.2:c.181-2790C>T	ENSP00000502781.1:n.181-2790C>T
ENST00000512396.6:c.*554C>T	ENSP00000421576.1:n.*554C>T
ENST00000643686.1:c.*670C>T	ENSP00000493611.1:n.*670C>T
ENST00000645491.1:c.*548C>T	ENSP00000494297.1:n.*548C>T
ENST00000646229.1:c.666C>T
ENST00000674523.1:c.615C>T	ENSP00000501816.1:p.Gly205=
ENST00000675094.1:n.1686C>T
ENST00000675204.1:c.615C>T	ENSP00000501643.1:p.Gly205=
ENST00000675355.1:n.400C>T
ENST00000675366.1:c.615C>T	ENSP00000501747.1:p.Gly205=
ENST00000675698.1:c.408C>T	ENSP00000501581.1:p.Gly136=
ENST00000675763.1:n.2522C>T
ENST00000675827.1:c.615C>T	ENSP00000501900.1:p.Gly205=
ENST00000675851.1:c.301-170C>T	ENSP00000502624.1:n.301-170C>T
ENST00000675898.1:n.2433C>T
ENST00000675967.1:n.2075C>T
ENST00000676327.1:c.523-170C>T	ENSP00000502594.1:n.523-170C>T