Canonical Allele Identifier: CA417064570
Gene: YARS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.33245820C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780219C>A , CM000663.2:g.32780219C>A GRCh38
NC_000001.10:g.33245820C>A , CM000663.1:g.33245820C>A GRCh37
NC_000001.9:g.33018407C>A NCBI36
NG_008408.1:g.42814G>T , LRG_273:g.42814G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1053G>T ENSP00000502019.1:p.Arg351=
ENST00000373477.9:c.1200G>T MANE Select ENSP00000362576.4:p.Arg400=
ENST00000674629.1:c.*748G>T ENSP00000502470.1:n.*748G>T
ENST00000674654.1:c.*1160G>T ENSP00000501729.1:n.*1160G>T
ENST00000675785.1:c.1053G>T ENSP00000502019.1:p.Arg351=
ENST00000676297.1:c.*1374G>T ENSP00000501596.1:n.*1374G>T
ENST00000373477.8:c.1200G>T ENSP00000362576.4:p.Arg400=
ENST00000469100.5:n.1116G>T
ENST00000478828.1:n.667G>T
ENST00000487404.5:n.1510G>T
ENST00000490826.1:n.493G>T
NM_003680.3:c.1200G>T , LRG_273t1:c.1200G>T NP_003671.1:p.Arg400=
XM_011542347.1:c.570G>T XP_011540649.1:p.Arg190=
XM_011542348.1:c.570G>T XP_011540650.1:p.Arg190=
XM_011542347.2:c.570G>T XP_011540649.1:p.Arg190=
XM_017002651.2:c.570G>T XP_016858140.1:p.Arg190=
NM_003680.4:c.1200G>T MANE Select NP_003671.1:p.Arg400=