Canonical Allele Identifier: CA2473063194
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780221G= , CM000663.2:g.32780221G= GRCh38
NC_000001.10:g.33245822G= , CM000663.1:g.33245822G= GRCh37
NC_000001.9:g.33018409G= NCBI36
NG_008408.1:g.42812C= , LRG_273:g.42812C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1051C= ENSP00000502019.1:p.Arg351=
ENST00000373477.9:c.1198C= MANE Select ENSP00000362576.4:p.Arg400=
ENST00000674629.1:c.*746C= ENSP00000502470.1:n.*746C=
ENST00000674654.1:c.*1158C= ENSP00000501729.1:n.*1158C=
ENST00000675785.1:c.1051C= ENSP00000502019.1:p.Arg351=
ENST00000676297.1:c.*1372C= ENSP00000501596.1:n.*1372C=
ENST00000373477.8:c.1198C= ENSP00000362576.4:p.Arg400=
ENST00000469100.5:n.1114C=
ENST00000478828.1:n.665C=
ENST00000487404.5:n.1508C=
ENST00000490826.1:n.491C=
NM_003680.3:c.1198C= , LRG_273t1:c.1198C= NP_003671.1:p.Arg400=
XM_011542347.1:c.568C= XP_011540649.1:p.Arg190=
XM_011542348.1:c.568C= XP_011540650.1:p.Arg190=
XM_011542347.2:c.568C= XP_011540649.1:p.Arg190=
XM_017002651.2:c.568C= XP_016858140.1:p.Arg190=
NM_003680.4:c.1198C= MANE Select NP_003671.1:p.Arg400=