Canonical Allele Identifier: CA2644702506

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780211-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780213del , CM000663.2:g.32780213del	GRCh38
NC_000001.10:g.33245814del , CM000663.1:g.33245814del	GRCh37
NC_000001.9:g.33018401del	NCBI36
NG_008408.1:g.42821del , LRG_273:g.42821del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1060del	ENSP00000502019.1:p.Val354Ter
ENST00000373477.9:c.1207del MANE Select	ENSP00000362576.4:p.Val403Ter
ENST00000674629.1:c.*755del	ENSP00000502470.1:n.*755del
ENST00000674654.1:c.*1167del	ENSP00000501729.1:n.*1167del
ENST00000675785.1:c.1060del	ENSP00000502019.1:p.Val354Ter
ENST00000676297.1:c.*1381del	ENSP00000501596.1:n.*1381del
ENST00000373477.8:c.1207del	ENSP00000362576.4:p.Val403Ter
ENST00000469100.5:n.1123del
ENST00000478828.1:n.674del
ENST00000487404.5:n.1517del
ENST00000490826.1:n.500del
NM_003680.3:c.1207del , LRG_273t1:c.1207del	NP_003671.1:p.Val403Ter
XM_011542347.1:c.577del	XP_011540649.1:p.Val193Ter
XM_011542348.1:c.577del	XP_011540650.1:p.Val193Ter
XM_011542347.2:c.577del	XP_011540649.1:p.Val193Ter
XM_017002651.2:c.577del	XP_016858140.1:p.Val193Ter
NM_003680.4:c.1207del MANE Select	NP_003671.1:p.Val403Ter