Canonical Allele Identifier: CA744960

Gene: YARS1

Linked Data

• ClinVar Variation Id: 565768
• ClinVar RCV Id: RCV000685408 ; RCV004026196
• dbSNP Id: rs749411607
• ExAC: 1:33245845 A / G
• gnomAD v2: 1-33245845-A-G
• gnomAD v3: 1-32780244-A-G
• gnomAD v4: 1-32780244-A-G
• MyVariant Identifiers: chr1:g.33245845A>G (hg19) ; chr1:g.32780244A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780244A>G , CM000663.2:g.32780244A>G	GRCh38
NC_000001.10:g.33245845A>G , CM000663.1:g.33245845A>G	GRCh37
NC_000001.9:g.33018432A>G	NCBI36
NG_008408.1:g.42789T>C , LRG_273:g.42789T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1028T>C	ENSP00000502019.1:p.Ile343Thr
ENST00000373477.9:c.1175T>C MANE Select	ENSP00000362576.4:p.Ile392Thr
ENST00000674629.1:c.*723T>C	ENSP00000502470.1:n.*723T>C
ENST00000674654.1:c.*1135T>C	ENSP00000501729.1:n.*1135T>C
ENST00000675785.1:c.1028T>C	ENSP00000502019.1:p.Ile343Thr
ENST00000676297.1:c.*1349T>C	ENSP00000501596.1:n.*1349T>C
ENST00000373477.8:c.1175T>C	ENSP00000362576.4:p.Ile392Thr
ENST00000469100.5:n.1091T>C
ENST00000478828.1:n.642T>C
ENST00000487404.5:n.1485T>C
ENST00000490826.1:n.468T>C
NM_003680.3:c.1175T>C , LRG_273t1:c.1175T>C	NP_003671.1:p.Ile392Thr
XM_011542347.1:c.545T>C	XP_011540649.1:p.Ile182Thr
XM_011542348.1:c.545T>C	XP_011540650.1:p.Ile182Thr
XM_011542347.2:c.545T>C	XP_011540649.1:p.Ile182Thr
XM_017002651.2:c.545T>C	XP_016858140.1:p.Ile182Thr
NM_003680.4:c.1175T>C MANE Select	NP_003671.1:p.Ile392Thr