Canonical Allele Identifier: CA3443799

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140674303A>G , CM000667.2:g.140674303A>G	GRCh38
NC_000005.9:g.140053888A>G , CM000667.1:g.140053888A>G	GRCh37
NC_000005.8:g.140034072A>G	NCBI36
NG_032158.1:g.22084T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1484T>C MANE Select	NP_002100.2:p.Val495Ala
ENST00000504156.7:c.1484T>C MANE Select	ENSP00000425634.1:p.Val495Ala
NM_001258040.2:c.1364T>C	NP_001244969.1:p.Val455Ala
NM_001258040.3:c.1364T>C	NP_001244969.1:p.Val455Ala
NM_001258041.2:c.1424T>C	NP_001244970.1:p.Val475Ala
NM_001258041.3:c.1424T>C	NP_001244970.1:p.Val475Ala
NM_001258042.2:c.1304T>C	NP_001244971.1:p.Val435Ala
NM_001258042.3:c.1304T>C	NP_001244971.1:p.Val435Ala
NM_001289092.1:c.1262T>C	NP_001276021.1:p.Val421Ala
NM_001289092.2:c.1262T>C	NP_001276021.1:p.Val421Ala
NM_001289093.1:c.1142T>C	NP_001276022.1:p.Val381Ala
NM_001289093.2:c.1142T>C	NP_001276022.1:p.Val381Ala
NM_001289094.1:c.1397T>C	NP_001276023.1:p.Val466Ala
NM_001289094.2:c.1397T>C	NP_001276023.1:p.Val466Ala
NM_002109.5:c.1484T>C	NP_002100.2:p.Val495Ala
ENST00000307633.7:c.1304T>C	ENSP00000304668.3:p.Val435Ala
ENST00000415192.6:c.1262T>C	ENSP00000411085.2:p.Val421Ala
ENST00000431330.6:c.1142T>C	ENSP00000393244.2:p.Val381Ala
ENST00000431330.7:c.1142T>C	ENSP00000393244.2:p.Val381Ala
ENST00000438307.6:c.1364T>C	ENSP00000411511.2:p.Val455Ala
ENST00000457527.6:c.1424T>C	ENSP00000387893.2:p.Val475Ala
ENST00000504156.5:c.1484T>C	ENSP00000425634.1:p.Val495Ala
ENST00000504366.5:c.1277T>C	ENSP00000430063.1:p.Val426Ala
ENST00000506579.6:n.4229T>C
ENST00000507746.7:c.1493T>C	ENSP00000425889.2:p.Val498Ala
ENST00000509087.1:n.490T>C
ENST00000509087.2:c.470T>C	ENSP00000502781.1:p.Val157Ala
ENST00000512396.6:c.*1423T>C	ENSP00000421576.1:n.*1423T>C
ENST00000643686.1:c.*1539T>C	ENSP00000493611.1:n.*1539T>C
ENST00000645491.1:c.*1417T>C	ENSP00000494297.1:n.*1417T>C
ENST00000646229.1:c.1535T>C
ENST00000674523.1:c.*774T>C	ENSP00000501816.1:n.*774T>C
ENST00000675094.1:n.2581T>C
ENST00000675204.1:c.*298T>C	ENSP00000501643.1:n.*298T>C
ENST00000675355.1:n.1269T>C
ENST00000675366.1:c.1367T>C	ENSP00000501747.1:p.Val456Ala
ENST00000675698.1:c.1277T>C	ENSP00000501581.1:p.Val426Ala
ENST00000675763.1:n.3391T>C
ENST00000675827.1:c.*577T>C	ENSP00000501900.1:n.*577T>C
ENST00000675851.1:c.1154T>C	ENSP00000502624.1:p.Val385Ala
ENST00000675898.1:n.3302T>C
ENST00000675967.1:n.3098T>C
ENST00000676327.1:c.1376T>C	ENSP00000502594.1:p.Val459Ala