Canonical Allele Identifier: CA339681878
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780263T>A , CM000663.2:g.32780263T>A GRCh38
NC_000001.10:g.33245864T>A , CM000663.1:g.33245864T>A GRCh37
NC_000001.9:g.33018451T>A NCBI36
NG_008408.1:g.42770A>T , LRG_273:g.42770A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1009A>T ENSP00000502019.1:p.Ser337Cys
ENST00000373477.9:c.1156A>T MANE Select ENSP00000362576.4:p.Ser386Cys
ENST00000674629.1:c.*704A>T ENSP00000502470.1:n.*704A>T
ENST00000674654.1:c.*1116A>T ENSP00000501729.1:n.*1116A>T
ENST00000675785.1:c.1009A>T ENSP00000502019.1:p.Ser337Cys
ENST00000676297.1:c.*1330A>T ENSP00000501596.1:n.*1330A>T
ENST00000373477.8:c.1156A>T ENSP00000362576.4:p.Ser386Cys
ENST00000469100.5:n.1072A>T
ENST00000478828.1:n.623A>T
ENST00000487404.5:n.1466A>T
ENST00000490826.1:n.449A>T
ENST00000616261.1:c.1155A>T ENSP00000484192.1:p.Thr385=
NM_003680.3:c.1156A>T , LRG_273t1:c.1156A>T NP_003671.1:p.Ser386Cys
XM_011542347.1:c.526A>T XP_011540649.1:p.Ser176Cys
XM_011542348.1:c.526A>T XP_011540650.1:p.Ser176Cys
XM_011542347.2:c.526A>T XP_011540649.1:p.Ser176Cys
XM_017002651.2:c.526A>T XP_016858140.1:p.Ser176Cys
NM_003680.4:c.1156A>T MANE Select NP_003671.1:p.Ser386Cys