Canonical Allele Identifier: CA339681791
Gene: YARS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32780242C>T , CM000663.2:g.32780242C>T GRCh38
NC_000001.10:g.33245843C>T , CM000663.1:g.33245843C>T GRCh37
NC_000001.9:g.33018430C>T NCBI36
NG_008408.1:g.42791G>A , LRG_273:g.42791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675785.2:c.1030G>A ENSP00000502019.1:p.Asp344Asn
ENST00000373477.9:c.1177G>A MANE Select ENSP00000362576.4:p.Asp393Asn
ENST00000674629.1:c.*725G>A ENSP00000502470.1:n.*725G>A
ENST00000674654.1:c.*1137G>A ENSP00000501729.1:n.*1137G>A
ENST00000675785.1:c.1030G>A ENSP00000502019.1:p.Asp344Asn
ENST00000676297.1:c.*1351G>A ENSP00000501596.1:n.*1351G>A
ENST00000373477.8:c.1177G>A ENSP00000362576.4:p.Asp393Asn
ENST00000469100.5:n.1093G>A
ENST00000478828.1:n.644G>A
ENST00000487404.5:n.1487G>A
ENST00000490826.1:n.470G>A
NM_003680.3:c.1177G>A , LRG_273t1:c.1177G>A NP_003671.1:p.Asp393Asn
XM_011542347.1:c.547G>A XP_011540649.1:p.Asp183Asn
XM_011542348.1:c.547G>A XP_011540650.1:p.Asp183Asn
XM_011542347.2:c.547G>A XP_011540649.1:p.Asp183Asn
XM_017002651.2:c.547G>A XP_016858140.1:p.Asp183Asn
NM_003680.4:c.1177G>A MANE Select NP_003671.1:p.Asp393Asn