Canonical Allele Identifier: CA2473063205
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780260G= , CM000663.2:g.32780260G= GRCh38
NC_000001.10:g.33245861G= , CM000663.1:g.33245861G= GRCh37
NC_000001.9:g.33018448G= NCBI36
NG_008408.1:g.42773C= , LRG_273:g.42773C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1012C= ENSP00000502019.1:p.Leu338=
ENST00000373477.9:c.1159C= MANE Select ENSP00000362576.4:p.Leu387=
ENST00000674629.1:c.*707C= ENSP00000502470.1:n.*707C=
ENST00000674654.1:c.*1119C= ENSP00000501729.1:n.*1119C=
ENST00000675785.1:c.1012C= ENSP00000502019.1:p.Leu338=
ENST00000676297.1:c.*1333C= ENSP00000501596.1:n.*1333C=
ENST00000373477.8:c.1159C= ENSP00000362576.4:p.Leu387=
ENST00000469100.5:n.1075C=
ENST00000478828.1:n.626C=
ENST00000487404.5:n.1469C=
ENST00000490826.1:n.452C=
ENST00000616261.1:c.1158C= ENSP00000484192.1:p.Ala386=
NM_003680.3:c.1159C= , LRG_273t1:c.1159C= NP_003671.1:p.Leu387=
XM_011542347.1:c.529C= XP_011540649.1:p.Leu177=
XM_011542348.1:c.529C= XP_011540650.1:p.Leu177=
XM_011542347.2:c.529C= XP_011540649.1:p.Leu177=
XM_017002651.2:c.529C= XP_016858140.1:p.Leu177=
NM_003680.4:c.1159C= MANE Select NP_003671.1:p.Leu387=