Canonical Allele Identifier: CA361252669
Community Standard Title: NM_002109.6(HARS1):c.902A>T (p.Asp301Val)
Gene: HARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140677038T>A , CM000667.2:g.140677038T>A GRCh38
NC_000005.9:g.140056623T>A , CM000667.1:g.140056623T>A GRCh37
NC_000005.8:g.140036807T>A NCBI36
NG_032158.1:g.19349A>T

Transcript Alleles

HGVS Amino-acid Change
NM_002109.6:c.902A>T MANE Select NP_002100.2:p.Asp301Val
ENST00000504156.7:c.902A>T MANE Select ENSP00000425634.1:p.Asp301Val
NM_001258040.2:c.782A>T NP_001244969.1:p.Asp261Val
NM_001258040.3:c.782A>T NP_001244969.1:p.Asp261Val
NM_001258041.2:c.842A>T NP_001244970.1:p.Asp281Val
NM_001258041.3:c.842A>T NP_001244970.1:p.Asp281Val
NM_001258042.2:c.722A>T NP_001244971.1:p.Asp241Val
NM_001258042.3:c.722A>T NP_001244971.1:p.Asp241Val
NM_001289092.1:c.680A>T NP_001276021.1:p.Asp227Val
NM_001289092.2:c.680A>T NP_001276021.1:p.Asp227Val
NM_001289093.1:c.560A>T NP_001276022.1:p.Asp187Val
NM_001289093.2:c.560A>T NP_001276022.1:p.Asp187Val
NM_001289094.1:c.815A>T NP_001276023.1:p.Asp272Val
NM_001289094.2:c.815A>T NP_001276023.1:p.Asp272Val
NM_002109.5:c.902A>T NP_002100.2:p.Asp301Val
ENST00000307633.7:c.722A>T ENSP00000304668.3:p.Asp241Val
ENST00000415192.6:c.680A>T ENSP00000411085.2:p.Asp227Val
ENST00000431330.6:c.560A>T ENSP00000393244.2:p.Asp187Val
ENST00000431330.7:c.560A>T ENSP00000393244.2:p.Asp187Val
ENST00000438307.6:c.782A>T ENSP00000411511.2:p.Asp261Val
ENST00000457527.6:c.842A>T ENSP00000387893.2:p.Asp281Val
ENST00000504156.5:c.902A>T ENSP00000425634.1:p.Asp301Val
ENST00000504366.5:c.695A>T ENSP00000430063.1:p.Asp232Val
ENST00000506579.5:n.1959A>T
ENST00000506579.6:n.2127A>T
ENST00000507746.5:c.572A>T ENSP00000425889.1:p.Asp191Val
ENST00000507746.7:c.902A>T ENSP00000425889.2:p.Asp301Val
ENST00000509087.2:c.181-1905A>T ENSP00000502781.1:n.181-1905A>T
ENST00000512396.6:c.*841A>T ENSP00000421576.1:n.*841A>T
ENST00000643686.1:c.*957A>T ENSP00000493611.1:n.*957A>T
ENST00000645491.1:c.*835A>T ENSP00000494297.1:n.*835A>T
ENST00000646229.1:c.953A>T
ENST00000674523.1:c.*192A>T ENSP00000501816.1:n.*192A>T
ENST00000675094.1:n.1999A>T
ENST00000675204.1:c.902A>T ENSP00000501643.1:p.Asp301Val
ENST00000675355.1:n.687A>T
ENST00000675366.1:c.902A>T ENSP00000501747.1:p.Asp301Val
ENST00000675698.1:c.695A>T ENSP00000501581.1:p.Asp232Val
ENST00000675763.1:n.2809A>T
ENST00000675827.1:c.808A>T ENSP00000501900.1:p.Thr270Ser
ENST00000675851.1:c.572A>T ENSP00000502624.1:p.Asp191Val
ENST00000675898.1:n.2720A>T
ENST00000675967.1:n.2516A>T
ENST00000676327.1:c.794A>T ENSP00000502594.1:p.Asp265Val