Canonical Allele Identifier: CA339681930
Gene: YARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1418947747

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780273T>C , CM000663.2:g.32780273T>C GRCh38
NC_000001.10:g.33245874T>C , CM000663.1:g.33245874T>C GRCh37
NC_000001.9:g.33018461T>C NCBI36
NG_008408.1:g.42760A>G , LRG_273:g.42760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.999A>G ENSP00000502019.1:p.Pro333=
ENST00000373477.9:c.1146A>G MANE Select ENSP00000362576.4:p.Pro382=
ENST00000674629.1:c.*694A>G ENSP00000502470.1:n.*694A>G
ENST00000674654.1:c.*1106A>G ENSP00000501729.1:n.*1106A>G
ENST00000675785.1:c.999A>G ENSP00000502019.1:p.Pro333=
ENST00000676297.1:c.*1320A>G ENSP00000501596.1:n.*1320A>G
ENST00000373477.8:c.1146A>G ENSP00000362576.4:p.Pro382=
ENST00000469100.5:n.1062A>G
ENST00000478828.1:n.613A>G
ENST00000487404.5:n.1456A>G
ENST00000490826.1:n.439A>G
ENST00000616261.1:c.1145A>G ENSP00000484192.1:p.Gln382Arg
NM_003680.3:c.1146A>G , LRG_273t1:c.1146A>G NP_003671.1:p.Pro382=
XM_011542347.1:c.516A>G XP_011540649.1:p.Pro172=
XM_011542348.1:c.516A>G XP_011540650.1:p.Pro172=
XM_011542347.2:c.516A>G XP_011540649.1:p.Pro172=
XM_017002651.2:c.516A>G XP_016858140.1:p.Pro172=
NM_003680.4:c.1146A>G MANE Select NP_003671.1:p.Pro382=