Canonical Allele Identifier: CA339681106

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1681481
• ClinVar RCV Id: RCV002239042
• dbSNP Id: rs2148599848
• MyVariant Identifiers: chr1:g.33245690A>C (hg19) ; chr1:g.32780089A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780089A>C , CM000663.2:g.32780089A>C	GRCh38
NC_000001.10:g.33245690A>C , CM000663.1:g.33245690A>C	GRCh37
NC_000001.9:g.33018277A>C	NCBI36
NG_008408.1:g.42944T>G , LRG_273:g.42944T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1183T>G	ENSP00000502019.1:p.Ser395Ala
ENST00000373477.9:c.1330T>G MANE Select	ENSP00000362576.4:p.Ser444Ala
ENST00000674629.1:c.*878T>G	ENSP00000502470.1:n.*878T>G
ENST00000674654.1:c.*1290T>G	ENSP00000501729.1:n.*1290T>G
ENST00000675785.1:c.1183T>G	ENSP00000502019.1:p.Ser395Ala
ENST00000676297.1:c.*1504T>G	ENSP00000501596.1:n.*1504T>G
ENST00000373477.8:c.1330T>G	ENSP00000362576.4:p.Ser444Ala
ENST00000469100.5:n.1246T>G
ENST00000478828.1:n.797T>G
ENST00000487404.5:n.1640T>G
ENST00000490826.1:n.623T>G
NM_003680.3:c.1330T>G , LRG_273t1:c.1330T>G	NP_003671.1:p.Ser444Ala
XM_011542347.1:c.700T>G	XP_011540649.1:p.Ser234Ala
XM_011542348.1:c.700T>G	XP_011540650.1:p.Ser234Ala
XM_011542347.2:c.700T>G	XP_011540649.1:p.Ser234Ala
XM_017002651.2:c.700T>G	XP_016858140.1:p.Ser234Ala
NM_003680.4:c.1330T>G MANE Select	NP_003671.1:p.Ser444Ala