Canonical Allele Identifier: CA744950

Gene: YARS1

Linked Data

• ClinVar Variation Id: 839020
• ClinVar RCV Id: RCV001040685
• dbSNP Id: rs763636325
• ExAC: 1:33245793 G / T
• gnomAD v2: 1-33245793-G-T
• gnomAD v3: 1-32780192-G-T
• gnomAD v4: 1-32780192-G-T
• MyVariant Identifiers: chr1:g.33245793G>T (hg19) ; chr1:g.32780192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780192G>T , CM000663.2:g.32780192G>T	GRCh38
NC_000001.10:g.33245793G>T , CM000663.1:g.33245793G>T	GRCh37
NC_000001.9:g.33018380G>T	NCBI36
NG_008408.1:g.42841C>A , LRG_273:g.42841C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1080C>A	ENSP00000502019.1:p.Phe360Leu
ENST00000373477.9:c.1227C>A MANE Select	ENSP00000362576.4:p.Phe409Leu
ENST00000674629.1:c.*775C>A	ENSP00000502470.1:n.*775C>A
ENST00000674654.1:c.*1187C>A	ENSP00000501729.1:n.*1187C>A
ENST00000675785.1:c.1080C>A	ENSP00000502019.1:p.Phe360Leu
ENST00000676297.1:c.*1401C>A	ENSP00000501596.1:n.*1401C>A
ENST00000373477.8:c.1227C>A	ENSP00000362576.4:p.Phe409Leu
ENST00000469100.5:n.1143C>A
ENST00000478828.1:n.694C>A
ENST00000487404.5:n.1537C>A
ENST00000490826.1:n.520C>A
NM_003680.3:c.1227C>A , LRG_273t1:c.1227C>A	NP_003671.1:p.Phe409Leu
XM_011542347.1:c.597C>A	XP_011540649.1:p.Phe199Leu
XM_011542348.1:c.597C>A	XP_011540650.1:p.Phe199Leu
XM_011542347.2:c.597C>A	XP_011540649.1:p.Phe199Leu
XM_017002651.2:c.597C>A	XP_016858140.1:p.Phe199Leu
NM_003680.4:c.1227C>A MANE Select	NP_003671.1:p.Phe409Leu