Canonical Allele Identifier: CA417064378
Gene: YARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.33245790C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780189C>A , CM000663.2:g.32780189C>A GRCh38
NC_000001.10:g.33245790C>A , CM000663.1:g.33245790C>A GRCh37
NC_000001.9:g.33018377C>A NCBI36
NG_008408.1:g.42844G>T , LRG_273:g.42844G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1083G>T ENSP00000502019.1:p.Val361=
ENST00000373477.9:c.1230G>T MANE Select ENSP00000362576.4:p.Val410=
ENST00000674629.1:c.*778G>T ENSP00000502470.1:n.*778G>T
ENST00000674654.1:c.*1190G>T ENSP00000501729.1:n.*1190G>T
ENST00000675785.1:c.1083G>T ENSP00000502019.1:p.Val361=
ENST00000676297.1:c.*1404G>T ENSP00000501596.1:n.*1404G>T
ENST00000373477.8:c.1230G>T ENSP00000362576.4:p.Val410=
ENST00000469100.5:n.1146G>T
ENST00000478828.1:n.697G>T
ENST00000487404.5:n.1540G>T
ENST00000490826.1:n.523G>T
NM_003680.3:c.1230G>T , LRG_273t1:c.1230G>T NP_003671.1:p.Val410=
XM_011542347.1:c.600G>T XP_011540649.1:p.Val200=
XM_011542348.1:c.600G>T XP_011540650.1:p.Val200=
XM_011542347.2:c.600G>T XP_011540649.1:p.Val200=
XM_017002651.2:c.600G>T XP_016858140.1:p.Val200=
NM_003680.4:c.1230G>T MANE Select NP_003671.1:p.Val410=