Canonical Allele Identifier: CA339681905
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780269C>A , CM000663.2:g.32780269C>A GRCh38
NC_000001.10:g.33245870C>A , CM000663.1:g.33245870C>A GRCh37
NC_000001.9:g.33018457C>A NCBI36
NG_008408.1:g.42764G>T , LRG_273:g.42764G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1003G>T ENSP00000502019.1:p.Ala335Ser
ENST00000373477.9:c.1150G>T MANE Select ENSP00000362576.4:p.Ala384Ser
ENST00000674629.1:c.*698G>T ENSP00000502470.1:n.*698G>T
ENST00000674654.1:c.*1110G>T ENSP00000501729.1:n.*1110G>T
ENST00000675785.1:c.1003G>T ENSP00000502019.1:p.Ala335Ser
ENST00000676297.1:c.*1324G>T ENSP00000501596.1:n.*1324G>T
ENST00000373477.8:c.1150G>T ENSP00000362576.4:p.Ala384Ser
ENST00000469100.5:n.1066G>T
ENST00000478828.1:n.617G>T
ENST00000487404.5:n.1460G>T
ENST00000490826.1:n.443G>T
ENST00000616261.1:c.1149G>T ENSP00000484192.1:p.Met383Ile
NM_003680.3:c.1150G>T , LRG_273t1:c.1150G>T NP_003671.1:p.Ala384Ser
XM_011542347.1:c.520G>T XP_011540649.1:p.Ala174Ser
XM_011542348.1:c.520G>T XP_011540650.1:p.Ala174Ser
XM_011542347.2:c.520G>T XP_011540649.1:p.Ala174Ser
XM_017002651.2:c.520G>T XP_016858140.1:p.Ala174Ser
NM_003680.4:c.1150G>T MANE Select NP_003671.1:p.Ala384Ser