Canonical Allele Identifier: CA339685247

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32787012A>T , CM000663.2:g.32787012A>T	GRCh38
NC_000001.10:g.33252613A>T , CM000663.1:g.33252613A>T	GRCh37
NC_000001.9:g.33025200A>T	NCBI36
NG_008408.1:g.36021T>A , LRG_273:g.36021T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.748T>A MANE Select	NP_003671.1:p.Cys250Ser
ENST00000373477.9:c.748T>A MANE Select	ENSP00000362576.4:p.Cys250Ser
NM_003680.3:c.748T>A , LRG_273t1:c.748T>A	NP_003671.1:p.Cys250Ser
ENST00000373477.8:c.748T>A	ENSP00000362576.4:p.Cys250Ser
ENST00000466052.1:n.656T>A
ENST00000481895.5:n.868T>A
ENST00000481895.6:c.*823T>A	ENSP00000502016.1:n.*823T>A
ENST00000616261.1:c.748T>A	ENSP00000484192.1:p.Cys250Ser
ENST00000616261.2:c.*117T>A	ENSP00000484192.2:n.*117T>A
ENST00000674629.1:c.*296T>A	ENSP00000502470.1:n.*296T>A
ENST00000674654.1:c.*216T>A	ENSP00000501729.1:n.*216T>A
ENST00000675785.1:c.601T>A	ENSP00000502019.1:p.Cys201Ser
ENST00000675785.2:c.601T>A	ENSP00000502019.1:p.Cys201Ser
ENST00000676297.1:c.*430T>A	ENSP00000501596.1:n.*430T>A
XM_011542347.1:c.118T>A	XP_011540649.1:p.Cys40Ser
XM_011542347.2:c.118T>A	XP_011540649.1:p.Cys40Ser
XM_011542348.1:c.118T>A	XP_011540650.1:p.Cys40Ser
XM_017002651.2:c.118T>A	XP_016858140.1:p.Cys40Ser