Canonical Allele Identifier: CA417064572
Gene: YARS1 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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