Canonical Allele Identifier: CA10609841

Gene: YARS1

Linked Data

• ClinVar Variation Id: 297133
• ClinVar RCV Id: RCV000317882
• dbSNP Id: rs950577466
• gnomAD v3: 1-32775257-A-G
• gnomAD v4: 1-32775257-A-G
• MyVariant Identifiers: chr1:g.33240858A>G (hg19) ; chr1:g.32775257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32775257A>G , CM000663.2:g.32775257A>G	GRCh38
NC_000001.10:g.33240858A>G , CM000663.1:g.33240858A>G	GRCh37
NC_000001.9:g.33013445A>G	NCBI36
NG_008408.1:g.47776T>C , LRG_273:g.47776T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373477.9:c.*724T>C MANE Select	ENSP00000362576.4:n.*724T>C
ENST00000373477.8:c.*724T>C	ENSP00000362576.4:n.*724T>C
ENST00000469100.5:n.2227T>C
ENST00000490826.1:n.2165T>C
NM_003680.3:c.*724T>C , LRG_273t1:c.*724T>C	NP_003671.1:n.*724T>C
XM_011542347.1:c.*724T>C	XP_011540649.1:n.*724T>C
XM_011542348.1:c.*724T>C	XP_011540650.1:n.*724T>C
XM_011542347.2:c.*724T>C	XP_011540649.1:n.*724T>C
XM_017002651.2:c.*724T>C	XP_016858140.1:n.*724T>C
NM_003680.4:c.*724T>C MANE Select	NP_003671.1:n.*724T>C