Canonical Allele Identifier: CA339686502

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32797767T>C , CM000663.2:g.32797767T>C	GRCh38
NC_000001.10:g.33263368T>C , CM000663.1:g.33263368T>C	GRCh37
NC_000001.9:g.33035955T>C	NCBI36
NG_008408.1:g.25266A>G , LRG_273:g.25266A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.587A>G MANE Select	NP_003671.1:p.Glu196Gly
ENST00000373477.9:c.587A>G MANE Select	ENSP00000362576.4:p.Glu196Gly
NM_003680.3:c.587A>G , LRG_273t1:c.587A>G	NP_003671.1:p.Glu196Gly
ENST00000373477.8:c.587A>G	ENSP00000362576.4:p.Glu196Gly
ENST00000466052.1:n.448A>G
ENST00000470377.1:n.176A>G
ENST00000481895.5:n.660A>G
ENST00000481895.6:c.587A>G	ENSP00000502016.1:p.Glu196Gly
ENST00000616261.1:c.587A>G	ENSP00000484192.1:p.Glu196Gly
ENST00000616261.2:c.587A>G	ENSP00000484192.2:p.Glu196Gly
ENST00000674629.1:c.*135A>G	ENSP00000502470.1:n.*135A>G
ENST00000674654.1:c.*55A>G	ENSP00000501729.1:n.*55A>G
ENST00000675785.1:c.440A>G	ENSP00000502019.1:p.Glu147Gly
ENST00000675785.2:c.440A>G	ENSP00000502019.1:p.Glu147Gly
ENST00000676297.1:c.*269A>G	ENSP00000501596.1:n.*269A>G
XM_011542347.1:c.-44A>G	XP_011540649.1:n.-44A>G
XM_011542347.2:c.-44A>G	XP_011540649.1:n.-44A>G
XM_011542348.1:c.-91A>G	XP_011540650.1:n.-91A>G
XM_017002651.2:c.-91A>G	XP_016858140.1:n.-91A>G