Canonical Allele Identifier: CA744963

Gene: YARS1

Linked Data

• ClinVar Variation Id: 760796
• ClinVar RCV Id: RCV001432823
• dbSNP Id: rs772261295
• ExAC: 1:33245871 A / G
• gnomAD v2: 1-33245871-A-G
• gnomAD v4: 1-32780270-A-G
• MyVariant Identifiers: chr1:g.33245871A>G (hg19) ; chr1:g.32780270A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780270A>G , CM000663.2:g.32780270A>G	GRCh38
NC_000001.10:g.33245871A>G , CM000663.1:g.33245871A>G	GRCh37
NC_000001.9:g.33018458A>G	NCBI36
NG_008408.1:g.42763T>C , LRG_273:g.42763T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1002T>C	ENSP00000502019.1:p.Asp334=
ENST00000373477.9:c.1149T>C MANE Select	ENSP00000362576.4:p.Asp383=
ENST00000674629.1:c.*697T>C	ENSP00000502470.1:n.*697T>C
ENST00000674654.1:c.*1109T>C	ENSP00000501729.1:n.*1109T>C
ENST00000675785.1:c.1002T>C	ENSP00000502019.1:p.Asp334=
ENST00000676297.1:c.*1323T>C	ENSP00000501596.1:n.*1323T>C
ENST00000373477.8:c.1149T>C	ENSP00000362576.4:p.Asp383=
ENST00000469100.5:n.1065T>C
ENST00000478828.1:n.616T>C
ENST00000487404.5:n.1459T>C
ENST00000490826.1:n.442T>C
ENST00000616261.1:c.1148T>C	ENSP00000484192.1:p.Met383Thr
NM_003680.3:c.1149T>C , LRG_273t1:c.1149T>C	NP_003671.1:p.Asp383=
XM_011542347.1:c.519T>C	XP_011540649.1:p.Asp173=
XM_011542348.1:c.519T>C	XP_011540650.1:p.Asp173=
XM_011542347.2:c.519T>C	XP_011540649.1:p.Asp173=
XM_017002651.2:c.519T>C	XP_016858140.1:p.Asp173=
NM_003680.4:c.1149T>C MANE Select	NP_003671.1:p.Asp383=