Canonical Allele Identifier: CA339682514

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32781064A>T , CM000663.2:g.32781064A>T	GRCh38
NC_000001.10:g.33246665A>T , CM000663.1:g.33246665A>T	GRCh37
NC_000001.9:g.33019252A>T	NCBI36
NG_008408.1:g.41969T>A , LRG_273:g.41969T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.1124T>A MANE Select	NP_003671.1:p.Ile375Asn
ENST00000373477.9:c.1124T>A MANE Select	ENSP00000362576.4:p.Ile375Asn
NM_003680.3:c.1124T>A , LRG_273t1:c.1124T>A	NP_003671.1:p.Ile375Asn
ENST00000373477.8:c.1124T>A	ENSP00000362576.4:p.Ile375Asn
ENST00000469100.5:n.1040T>A
ENST00000478828.1:n.591T>A
ENST00000487404.5:n.1434T>A
ENST00000616261.1:c.1123T>A	ENSP00000484192.1:p.Ser375Thr
ENST00000674629.1:c.*672T>A	ENSP00000502470.1:n.*672T>A
ENST00000674654.1:c.*1084T>A	ENSP00000501729.1:n.*1084T>A
ENST00000675785.1:c.977T>A	ENSP00000502019.1:p.Ile326Asn
ENST00000675785.2:c.977T>A	ENSP00000502019.1:p.Ile326Asn
ENST00000676297.1:c.*1298T>A	ENSP00000501596.1:n.*1298T>A
XM_011542347.1:c.494T>A	XP_011540649.1:p.Ile165Asn
XM_011542347.2:c.494T>A	XP_011540649.1:p.Ile165Asn
XM_011542348.1:c.494T>A	XP_011540650.1:p.Ile165Asn
XM_017002651.2:c.494T>A	XP_016858140.1:p.Ile165Asn