Canonical Allele Identifier: CA339683226
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32782402A>G , CM000663.2:g.32782402A>G GRCh38
NC_000001.10:g.33248003A>G , CM000663.1:g.33248003A>G GRCh37
NC_000001.9:g.33020590A>G NCBI36
NG_008408.1:g.40631T>C , LRG_273:g.40631T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000675785.2:c.895+2T>C ENSP00000502019.1:n.895+2T>C
ENST00000373477.9:c.1042+2T>C MANE Select ENSP00000362576.4:n.1042+2T>C
ENST00000674629.1:c.*590+2T>C ENSP00000502470.1:n.*590+2T>C
ENST00000674654.1:c.*1002+2T>C ENSP00000501729.1:n.*1002+2T>C
ENST00000675785.1:c.895+2T>C ENSP00000502019.1:n.895+2T>C
ENST00000676297.1:c.*1216+2T>C ENSP00000501596.1:n.*1216+2T>C
ENST00000373477.8:c.1042+2T>C ENSP00000362576.4:n.1042+2T>C
ENST00000478828.1:n.509+2T>C
ENST00000487404.5:n.1352+2T>C
ENST00000616261.1:c.1042+2T>C ENSP00000484192.1:n.1042+2T>C
NM_003680.3:c.1042+2T>C , LRG_273t1:c.1042+2T>C NP_003671.1:n.1042+2T>C
XM_011542347.1:c.412+2T>C XP_011540649.1:n.412+2T>C
XM_011542348.1:c.412+2T>C XP_011540650.1:n.412+2T>C
XM_011542347.2:c.412+2T>C XP_011540649.1:n.412+2T>C
XM_017002651.2:c.412+2T>C XP_016858140.1:n.412+2T>C
NM_003680.4:c.1042+2T>C MANE Select NP_003671.1:n.1042+2T>C