Canonical Allele Identifier: CA2473063125
Gene: YARS1 HGNC NCBI

Linked Data

dbSNP Id: rs1653000206
gnomAD v4: 1-32780052-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780052A>G , CM000663.2:g.32780052A>G GRCh38
NC_000001.10:g.33245653A>G , CM000663.1:g.33245653A>G GRCh37
NC_000001.9:g.33018240A>G NCBI36
NG_008408.1:g.42981T>C , LRG_273:g.42981T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1187+33T>C ENSP00000502019.1:n.1187+33T>C
ENST00000373477.9:c.1334+33T>C MANE Select ENSP00000362576.4:n.1334+33T>C
ENST00000674629.1:c.*882+33T>C ENSP00000502470.1:n.*882+33T>C
ENST00000674654.1:c.*1294+33T>C ENSP00000501729.1:n.*1294+33T>C
ENST00000675785.1:c.1187+33T>C ENSP00000502019.1:n.1187+33T>C
ENST00000676297.1:c.*1508+33T>C ENSP00000501596.1:n.*1508+33T>C
ENST00000373477.8:c.1334+33T>C ENSP00000362576.4:n.1334+33T>C
ENST00000469100.5:n.1250+33T>C
ENST00000478828.1:n.801+33T>C
ENST00000487404.5:n.1644+33T>C
ENST00000490826.1:n.660T>C
NM_003680.3:c.1334+33T>C , LRG_273t1:c.1334+33T>C NP_003671.1:n.1334+33T>C
XM_011542347.1:c.704+33T>C XP_011540649.1:n.704+33T>C
XM_011542348.1:c.704+33T>C XP_011540650.1:n.704+33T>C
XM_011542347.2:c.704+33T>C XP_011540649.1:n.704+33T>C
XM_017002651.2:c.704+33T>C XP_016858140.1:n.704+33T>C
NM_003680.4:c.1334+33T>C MANE Select NP_003671.1:n.1334+33T>C