Canonical Allele Identifier: CA3223553
Community Standard Title: NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)
Gene: TARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33466874C>T , CM000667.2:g.33466874C>T GRCh38
NC_000005.9:g.33466979C>T , CM000667.1:g.33466979C>T GRCh37
NC_000005.8:g.33502736C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_152295.5:c.1912C>T MANE Select NP_689508.3:p.Arg638Ter
ENST00000265112.8:c.1912C>T MANE Select ENSP00000265112.3:p.Arg638Ter
NM_001258437.1:c.1912C>T NP_001245366.1:p.Arg638Ter
NM_001258438.1:c.2011C>T NP_001245367.1:p.Arg671Ter
NM_001258438.2:c.2011C>T NP_001245367.1:p.Arg671Ter
NM_152295.4:c.1912C>T NP_689508.3:p.Arg638Ter
NR_047676.1:n.2344C>T
NR_047676.2:n.2155C>T
NR_047677.1:n.2062C>T
NR_047677.2:n.1873C>T
NR_047678.1:n.2032C>T
NR_047678.2:n.1843C>T
ENST00000265112.7:c.1912C>T ENSP00000265112.3:p.Arg638Ter
ENST00000455217.6:c.2011C>T ENSP00000387710.2:p.Arg671Ter
ENST00000502553.5:c.1912C>T ENSP00000424387.1:p.Arg638Ter
ENST00000503422.1:n.117C>T
ENST00000507716.5:c.*1355C>T ENSP00000420893.1:n.*1355C>T
ENST00000508361.5:c.*1550C>T ENSP00000427627.1:n.*1550C>T
ENST00000509731.5:c.*1865C>T ENSP00000427304.1:n.*1865C>T