Canonical Allele Identifier: CA2473063208
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780270A= , CM000663.2:g.32780270A= GRCh38
NC_000001.10:g.33245871A= , CM000663.1:g.33245871A= GRCh37
NC_000001.9:g.33018458A= NCBI36
NG_008408.1:g.42763T= , LRG_273:g.42763T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1002T= ENSP00000502019.1:p.Asp334=
ENST00000373477.9:c.1149T= MANE Select ENSP00000362576.4:p.Asp383=
ENST00000674629.1:c.*697T= ENSP00000502470.1:n.*697T=
ENST00000674654.1:c.*1109T= ENSP00000501729.1:n.*1109T=
ENST00000675785.1:c.1002T= ENSP00000502019.1:p.Asp334=
ENST00000676297.1:c.*1323T= ENSP00000501596.1:n.*1323T=
ENST00000373477.8:c.1149T= ENSP00000362576.4:p.Asp383=
ENST00000469100.5:n.1065T=
ENST00000478828.1:n.616T=
ENST00000487404.5:n.1459T=
ENST00000490826.1:n.442T=
ENST00000616261.1:c.1148T= ENSP00000484192.1:p.Met383=
NM_003680.3:c.1149T= , LRG_273t1:c.1149T= NP_003671.1:p.Asp383=
XM_011542347.1:c.519T= XP_011540649.1:p.Asp173=
XM_011542348.1:c.519T= XP_011540650.1:p.Asp173=
XM_011542347.2:c.519T= XP_011540649.1:p.Asp173=
XM_017002651.2:c.519T= XP_016858140.1:p.Asp173=
NM_003680.4:c.1149T= MANE Select NP_003671.1:p.Asp383=