Canonical Allele Identifier: CA10610919

Gene: YARS1

Linked Data

• ClinVar Variation Id: 297146
• ClinVar RCV Id: RCV000403104
• dbSNP Id: rs41265857
• gnomAD v2: 1-33241444-C-T
• gnomAD v3: 1-32775843-C-T
• gnomAD v4: 1-32775843-C-T
• MyVariant Identifiers: chr1:g.33241444C>T (hg19) ; chr1:g.32775843C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32775843C>T , CM000663.2:g.32775843C>T	GRCh38
NC_000001.10:g.33241444C>T , CM000663.1:g.33241444C>T	GRCh37
NC_000001.9:g.33014031C>T	NCBI36
NG_008408.1:g.47190G>A , LRG_273:g.47190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.*138G>A	ENSP00000502019.1:n.*138G>A
ENST00000373477.9:c.*138G>A MANE Select	ENSP00000362576.4:n.*138G>A
ENST00000674629.1:c.*1273G>A	ENSP00000502470.1:n.*1273G>A
ENST00000674654.1:c.*1685G>A	ENSP00000501729.1:n.*1685G>A
ENST00000675785.1:c.*138G>A	ENSP00000502019.1:n.*138G>A
ENST00000676297.1:c.*1899G>A	ENSP00000501596.1:n.*1899G>A
ENST00000373477.8:c.*138G>A	ENSP00000362576.4:n.*138G>A
ENST00000469100.5:n.1641G>A
ENST00000487404.5:n.2035G>A
ENST00000490826.1:n.1579G>A
NM_003680.3:c.*138G>A , LRG_273t1:c.*138G>A	NP_003671.1:n.*138G>A
XM_011542347.1:c.*138G>A	XP_011540649.1:n.*138G>A
XM_011542348.1:c.*138G>A	XP_011540650.1:n.*138G>A
XM_011542347.2:c.*138G>A	XP_011540649.1:n.*138G>A
XM_017002651.2:c.*138G>A	XP_016858140.1:n.*138G>A
NM_003680.4:c.*138G>A MANE Select	NP_003671.1:n.*138G>A