Canonical Allele Identifier: CA744989

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32781089G>A , CM000663.2:g.32781089G>A	GRCh38
NC_000001.10:g.33246690G>A , CM000663.1:g.33246690G>A	GRCh37
NC_000001.9:g.33019277G>A	NCBI36
NG_008408.1:g.41944C>T , LRG_273:g.41944C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.1099C>T MANE Select	NP_003671.1:p.Arg367Trp
ENST00000373477.9:c.1099C>T MANE Select	ENSP00000362576.4:p.Arg367Trp
NM_003680.3:c.1099C>T , LRG_273t1:c.1099C>T	NP_003671.1:p.Arg367Trp
ENST00000373477.8:c.1099C>T	ENSP00000362576.4:p.Arg367Trp
ENST00000469100.5:n.1015C>T
ENST00000478828.1:n.566C>T
ENST00000487404.5:n.1409C>T
ENST00000616261.1:c.1098C>T	ENSP00000484192.1:p.Pro366=
ENST00000674629.1:c.*647C>T	ENSP00000502470.1:n.*647C>T
ENST00000674654.1:c.*1059C>T	ENSP00000501729.1:n.*1059C>T
ENST00000675785.1:c.952C>T	ENSP00000502019.1:p.Arg318Trp
ENST00000675785.2:c.952C>T	ENSP00000502019.1:p.Arg318Trp
ENST00000676297.1:c.*1273C>T	ENSP00000501596.1:n.*1273C>T
XM_011542347.1:c.469C>T	XP_011540649.1:p.Arg157Trp
XM_011542347.2:c.469C>T	XP_011540649.1:p.Arg157Trp
XM_011542348.1:c.469C>T	XP_011540650.1:p.Arg157Trp
XM_017002651.2:c.469C>T	XP_016858140.1:p.Arg157Trp