Canonical Allele Identifier: CA744944

Gene: YARS1

Linked Data

• ClinVar Variation Id: 700421
• ClinVar RCV Id: RCV000868595 ; RCV002539008
• dbSNP Id: rs76611863
• ExAC: 1:33245774 G / T
• gnomAD v2: 1-33245774-G-T
• gnomAD v3: 1-32780173-G-T
• gnomAD v4: 1-32780173-G-T
• MyVariant Identifiers: chr1:g.33245774G>T (hg19) ; chr1:g.32780173G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780173G>T , CM000663.2:g.32780173G>T	GRCh38
NC_000001.10:g.33245774G>T , CM000663.1:g.33245774G>T	GRCh37
NC_000001.9:g.33018361G>T	NCBI36
NG_008408.1:g.42860C>A , LRG_273:g.42860C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1099C>A	ENSP00000502019.1:p.Gln367Lys
ENST00000373477.9:c.1246C>A MANE Select	ENSP00000362576.4:p.Gln416Lys
ENST00000674629.1:c.*794C>A	ENSP00000502470.1:n.*794C>A
ENST00000674654.1:c.*1206C>A	ENSP00000501729.1:n.*1206C>A
ENST00000675785.1:c.1099C>A	ENSP00000502019.1:p.Gln367Lys
ENST00000676297.1:c.*1420C>A	ENSP00000501596.1:n.*1420C>A
ENST00000373477.8:c.1246C>A	ENSP00000362576.4:p.Gln416Lys
ENST00000469100.5:n.1162C>A
ENST00000478828.1:n.713C>A
ENST00000487404.5:n.1556C>A
ENST00000490826.1:n.539C>A
NM_003680.3:c.1246C>A , LRG_273t1:c.1246C>A	NP_003671.1:p.Gln416Lys
XM_011542347.1:c.616C>A	XP_011540649.1:p.Gln206Lys
XM_011542348.1:c.616C>A	XP_011540650.1:p.Gln206Lys
XM_011542347.2:c.616C>A	XP_011540649.1:p.Gln206Lys
XM_017002651.2:c.616C>A	XP_016858140.1:p.Gln206Lys
NM_003680.4:c.1246C>A MANE Select	NP_003671.1:p.Gln416Lys