Canonical Allele Identifier: CA3443906

Gene: HARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140676671C>T , CM000667.2:g.140676671C>T	GRCh38
NC_000005.9:g.140056256C>T , CM000667.1:g.140056256C>T	GRCh37
NC_000005.8:g.140036440C>T	NCBI36
NG_032158.1:g.19716G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002109.6:c.1177G>A MANE Select	NP_002100.2:p.Val393Met
ENST00000504156.7:c.1177G>A MANE Select	ENSP00000425634.1:p.Val393Met
NM_001258040.2:c.1057G>A	NP_001244969.1:p.Val353Met
NM_001258040.3:c.1057G>A	NP_001244969.1:p.Val353Met
NM_001258041.2:c.1117G>A	NP_001244970.1:p.Val373Met
NM_001258041.3:c.1117G>A	NP_001244970.1:p.Val373Met
NM_001258042.2:c.997G>A	NP_001244971.1:p.Val333Met
NM_001258042.3:c.997G>A	NP_001244971.1:p.Val333Met
NM_001289092.1:c.955G>A	NP_001276021.1:p.Val319Met
NM_001289092.2:c.955G>A	NP_001276021.1:p.Val319Met
NM_001289093.1:c.835G>A	NP_001276022.1:p.Val279Met
NM_001289093.2:c.835G>A	NP_001276022.1:p.Val279Met
NM_001289094.1:c.1090G>A	NP_001276023.1:p.Val364Met
NM_001289094.2:c.1090G>A	NP_001276023.1:p.Val364Met
NM_002109.5:c.1177G>A	NP_002100.2:p.Val393Met
ENST00000307633.7:c.997G>A	ENSP00000304668.3:p.Val333Met
ENST00000415192.6:c.955G>A	ENSP00000411085.2:p.Val319Met
ENST00000431330.6:c.835G>A	ENSP00000393244.2:p.Val279Met
ENST00000431330.7:c.835G>A	ENSP00000393244.2:p.Val279Met
ENST00000438307.6:c.1057G>A	ENSP00000411511.2:p.Val353Met
ENST00000457527.6:c.1117G>A	ENSP00000387893.2:p.Val373Met
ENST00000504156.5:c.1177G>A	ENSP00000425634.1:p.Val393Met
ENST00000504366.5:c.970G>A	ENSP00000430063.1:p.Val324Met
ENST00000506579.5:n.2234G>A
ENST00000506579.6:n.2402G>A
ENST00000507746.5:c.847G>A	ENSP00000425889.1:p.Val283Met
ENST00000507746.7:c.1177G>A	ENSP00000425889.2:p.Val393Met
ENST00000509087.2:c.181-1538G>A	ENSP00000502781.1:n.181-1538G>A
ENST00000512396.6:c.*1116G>A	ENSP00000421576.1:n.*1116G>A
ENST00000643686.1:c.*1232G>A	ENSP00000493611.1:n.*1232G>A
ENST00000645491.1:c.*1110G>A	ENSP00000494297.1:n.*1110G>A
ENST00000646229.1:c.1228G>A
ENST00000674523.1:c.*467G>A	ENSP00000501816.1:n.*467G>A
ENST00000675094.1:n.2274G>A
ENST00000675204.1:c.1177G>A	ENSP00000501643.1:p.Val393Met
ENST00000675355.1:n.962G>A
ENST00000675366.1:c.1177G>A	ENSP00000501747.1:p.Val393Met
ENST00000675698.1:c.970G>A	ENSP00000501581.1:p.Val324Met
ENST00000675763.1:n.3084G>A
ENST00000675827.1:c.*270G>A	ENSP00000501900.1:n.*270G>A
ENST00000675851.1:c.847G>A	ENSP00000502624.1:p.Val283Met
ENST00000675898.1:n.2995G>A
ENST00000675967.1:n.2791G>A
ENST00000676327.1:c.1069G>A	ENSP00000502594.1:p.Val357Met