Canonical Allele Identifier: CA339686721
Community Standard Title: NM_003680.4(YARS1):c.497A>G (p.Tyr166Cys)
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32806495T>C , CM000663.2:g.32806495T>C GRCh38
NC_000001.10:g.33272096T>C , CM000663.1:g.33272096T>C GRCh37
NC_000001.9:g.33044683T>C NCBI36
NG_008408.1:g.16538A>G , LRG_273:g.16538A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.497A>G MANE Select NP_003671.1:p.Tyr166Cys
ENST00000373477.9:c.497A>G MANE Select ENSP00000362576.4:p.Tyr166Cys
NM_003680.3:c.497A>G , LRG_273t1:c.497A>G NP_003671.1:p.Tyr166Cys
ENST00000373477.8:c.497A>G ENSP00000362576.4:p.Tyr166Cys
ENST00000470377.1:n.86A>G
ENST00000481895.5:n.570A>G
ENST00000481895.6:c.497A>G ENSP00000502016.1:p.Tyr166Cys
ENST00000616261.1:c.497A>G ENSP00000484192.1:p.Tyr166Cys
ENST00000616261.2:c.497A>G ENSP00000484192.2:p.Tyr166Cys
ENST00000674629.1:c.*45A>G ENSP00000502470.1:n.*45A>G
ENST00000674654.1:c.380+4096A>G ENSP00000501729.1:n.380+4096A>G
ENST00000675785.1:c.350A>G ENSP00000502019.1:p.Tyr117Cys
ENST00000675785.2:c.350A>G ENSP00000502019.1:p.Tyr117Cys
ENST00000676297.1:c.497A>G ENSP00000501596.1:p.Tyr166Cys
XM_011542347.1:c.-134A>G XP_011540649.1:n.-134A>G
XM_011542347.2:c.-134A>G XP_011540649.1:n.-134A>G
XM_011542348.1:c.-181A>G XP_011540650.1:n.-181A>G
XM_017002651.2:c.-181A>G XP_016858140.1:n.-181A>G