Canonical Allele Identifier: CA2739272449
Community Standard Title: NM_003680.4(YARS1):c.510+12G>A
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32806470C>T , CM000663.2:g.32806470C>T GRCh38
NC_000001.10:g.33272071C>T , CM000663.1:g.33272071C>T GRCh37
NC_000001.9:g.33044658C>T NCBI36
NG_008408.1:g.16563G>A , LRG_273:g.16563G>A

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.510+12G>A MANE Select NP_003671.1:n.510+12G>A
ENST00000373477.9:c.510+12G>A MANE Select ENSP00000362576.4:n.510+12G>A
NM_003680.3:c.510+12G>A , LRG_273t1:c.510+12G>A NP_003671.1:n.510+12G>A
ENST00000373477.8:c.510+12G>A ENSP00000362576.4:n.510+12G>A
ENST00000470377.1:n.99+12G>A
ENST00000481895.5:n.583+12G>A
ENST00000481895.6:c.510+12G>A ENSP00000502016.1:n.510+12G>A
ENST00000616261.1:c.510+12G>A ENSP00000484192.1:n.510+12G>A
ENST00000616261.2:c.510+12G>A ENSP00000484192.2:n.510+12G>A
ENST00000674629.1:c.*58+12G>A ENSP00000502470.1:n.*58+12G>A
ENST00000674654.1:c.380+4121G>A ENSP00000501729.1:n.380+4121G>A
ENST00000675785.1:c.363+12G>A ENSP00000502019.1:n.363+12G>A
ENST00000675785.2:c.363+12G>A ENSP00000502019.1:n.363+12G>A
ENST00000676297.1:c.510+12G>A ENSP00000501596.1:n.510+12G>A
XM_011542347.1:c.-121+12G>A XP_011540649.1:n.-121+12G>A
XM_011542347.2:c.-121+12G>A XP_011540649.1:n.-121+12G>A
XM_011542348.1:c.-168+12G>A XP_011540650.1:n.-168+12G>A
XM_017002651.2:c.-168+12G>A XP_016858140.1:n.-168+12G>A