Canonical Allele Identifier: CA2473063196
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780223G= , CM000663.2:g.32780223G= GRCh38
NC_000001.10:g.33245824G= , CM000663.1:g.33245824G= GRCh37
NC_000001.9:g.33018411G= NCBI36
NG_008408.1:g.42810C= , LRG_273:g.42810C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1049C= ENSP00000502019.1:p.Pro350=
ENST00000373477.9:c.1196C= MANE Select ENSP00000362576.4:p.Pro399=
ENST00000674629.1:c.*744C= ENSP00000502470.1:n.*744C=
ENST00000674654.1:c.*1156C= ENSP00000501729.1:n.*1156C=
ENST00000675785.1:c.1049C= ENSP00000502019.1:p.Pro350=
ENST00000676297.1:c.*1370C= ENSP00000501596.1:n.*1370C=
ENST00000373477.8:c.1196C= ENSP00000362576.4:p.Pro399=
ENST00000469100.5:n.1112C=
ENST00000478828.1:n.663C=
ENST00000487404.5:n.1506C=
ENST00000490826.1:n.489C=
NM_003680.3:c.1196C= , LRG_273t1:c.1196C= NP_003671.1:p.Pro399=
XM_011542347.1:c.566C= XP_011540649.1:p.Pro189=
XM_011542348.1:c.566C= XP_011540650.1:p.Pro189=
XM_011542347.2:c.566C= XP_011540649.1:p.Pro189=
XM_017002651.2:c.566C= XP_016858140.1:p.Pro189=
NM_003680.4:c.1196C= MANE Select NP_003671.1:p.Pro399=