Canonical Allele Identifier: CA744864

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32776045G>A , CM000663.2:g.32776045G>A	GRCh38
NC_000001.10:g.33241646G>A , CM000663.1:g.33241646G>A	GRCh37
NC_000001.9:g.33014233G>A	NCBI36
NG_008408.1:g.46988C>T , LRG_273:g.46988C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.1523C>T MANE Select	NP_003671.1:p.Thr508Ile
ENST00000373477.9:c.1523C>T MANE Select	ENSP00000362576.4:p.Thr508Ile
NM_003680.3:c.1523C>T , LRG_273t1:c.1523C>T	NP_003671.1:p.Thr508Ile
ENST00000373477.8:c.1523C>T	ENSP00000362576.4:p.Thr508Ile
ENST00000469100.5:n.1439C>T
ENST00000478828.1:n.990C>T
ENST00000487404.5:n.1833C>T
ENST00000490826.1:n.1377C>T
ENST00000674629.1:c.*1071C>T	ENSP00000502470.1:n.*1071C>T
ENST00000674654.1:c.*1483C>T	ENSP00000501729.1:n.*1483C>T
ENST00000675785.1:c.1376C>T	ENSP00000502019.1:p.Thr459Ile
ENST00000675785.2:c.1376C>T	ENSP00000502019.1:p.Thr459Ile
ENST00000676297.1:c.*1697C>T	ENSP00000501596.1:n.*1697C>T
XM_011542347.1:c.893C>T	XP_011540649.1:p.Thr298Ile
XM_011542347.2:c.893C>T	XP_011540649.1:p.Thr298Ile
XM_011542348.1:c.893C>T	XP_011540650.1:p.Thr298Ile
XM_017002651.2:c.893C>T	XP_016858140.1:p.Thr298Ile