Canonical Allele Identifier: CA2644702521
Gene: YARS1 HGNC NCBI

Linked Data

gnomAD v4: 1-32780330-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780330A>G , CM000663.2:g.32780330A>G GRCh38
NC_000001.10:g.33245931A>G , CM000663.1:g.33245931A>G GRCh37
NC_000001.9:g.33018518A>G NCBI36
NG_008408.1:g.42703T>C , LRG_273:g.42703T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.994-52T>C ENSP00000502019.1:n.994-52T>C
ENST00000373477.9:c.1141-52T>C MANE Select ENSP00000362576.4:n.1141-52T>C
ENST00000674629.1:c.*689-52T>C ENSP00000502470.1:n.*689-52T>C
ENST00000674654.1:c.*1101-52T>C ENSP00000501729.1:n.*1101-52T>C
ENST00000675785.1:c.994-52T>C ENSP00000502019.1:n.994-52T>C
ENST00000676297.1:c.*1315-52T>C ENSP00000501596.1:n.*1315-52T>C
ENST00000373477.8:c.1141-52T>C ENSP00000362576.4:n.1141-52T>C
ENST00000469100.5:n.1057-52T>C
ENST00000478828.1:n.608-52T>C
ENST00000487404.5:n.1451-52T>C
ENST00000490826.1:n.382T>C
ENST00000616261.1:c.1140-52T>C ENSP00000484192.1:n.1140-52T>C
NM_003680.3:c.1141-52T>C , LRG_273t1:c.1141-52T>C NP_003671.1:n.1141-52T>C
XM_011542347.1:c.511-52T>C XP_011540649.1:n.511-52T>C
XM_011542348.1:c.511-52T>C XP_011540650.1:n.511-52T>C
XM_011542347.2:c.511-52T>C XP_011540649.1:n.511-52T>C
XM_017002651.2:c.511-52T>C XP_016858140.1:n.511-52T>C
NM_003680.4:c.1141-52T>C MANE Select NP_003671.1:n.1141-52T>C