Canonical Allele Identifier: CA745073

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32786433G>A , CM000663.2:g.32786433G>A	GRCh38
NC_000001.10:g.33252034G>A , CM000663.1:g.33252034G>A	GRCh37
NC_000001.9:g.33024621G>A	NCBI36
NG_008408.1:g.36600C>T , LRG_273:g.36600C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.835C>T MANE Select	NP_003671.1:p.Arg279Ter
ENST00000373477.9:c.835C>T MANE Select	ENSP00000362576.4:p.Arg279Ter
NM_003680.3:c.835C>T , LRG_273t1:c.835C>T	NP_003671.1:p.Arg279Ter
ENST00000373477.8:c.835C>T	ENSP00000362576.4:p.Arg279Ter
ENST00000478828.1:n.302C>T
ENST00000481895.5:n.955C>T
ENST00000481895.6:c.*1402C>T	ENSP00000502016.1:n.*1402C>T
ENST00000616261.1:c.835C>T	ENSP00000484192.1:p.Arg279Ter
ENST00000616261.2:c.*204C>T	ENSP00000484192.2:n.*204C>T
ENST00000674629.1:c.*383C>T	ENSP00000502470.1:n.*383C>T
ENST00000674654.1:c.*795C>T	ENSP00000501729.1:n.*795C>T
ENST00000675785.1:c.688C>T	ENSP00000502019.1:p.Arg230Ter
ENST00000675785.2:c.688C>T	ENSP00000502019.1:p.Arg230Ter
ENST00000676297.1:c.*1009C>T	ENSP00000501596.1:n.*1009C>T
XM_011542347.1:c.205C>T	XP_011540649.1:p.Arg69Ter
XM_011542347.2:c.205C>T	XP_011540649.1:p.Arg69Ter
XM_011542348.1:c.205C>T	XP_011540650.1:p.Arg69Ter
XM_017002651.2:c.205C>T	XP_016858140.1:p.Arg69Ter