Canonical Allele Identifier: CA744845

Gene: YARS1

Linked Data

• ClinVar Variation Id: 297147
• ClinVar RCV Id: RCV000304126
• dbSNP Id: rs149812692
• ExAC: 1:33241561 G / T
• gnomAD v2: 1-33241561-G-T
• gnomAD v3: 1-32775960-G-T
• gnomAD v4: 1-32775960-G-T
• MyVariant Identifiers: chr1:g.33241561G>T (hg19) ; chr1:g.32775960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32775960G>T , CM000663.2:g.32775960G>T	GRCh38
NC_000001.10:g.33241561G>T , CM000663.1:g.33241561G>T	GRCh37
NC_000001.9:g.33014148G>T	NCBI36
NG_008408.1:g.47073C>A , LRG_273:g.47073C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.*21C>A	ENSP00000502019.1:n.*21C>A
ENST00000373477.9:c.*21C>A MANE Select	ENSP00000362576.4:n.*21C>A
ENST00000674629.1:c.*1156C>A	ENSP00000502470.1:n.*1156C>A
ENST00000674654.1:c.*1568C>A	ENSP00000501729.1:n.*1568C>A
ENST00000675785.1:c.*21C>A	ENSP00000502019.1:n.*21C>A
ENST00000676297.1:c.*1782C>A	ENSP00000501596.1:n.*1782C>A
ENST00000373477.8:c.*21C>A	ENSP00000362576.4:n.*21C>A
ENST00000469100.5:n.1524C>A
ENST00000487404.5:n.1918C>A
ENST00000490826.1:n.1462C>A
NM_003680.3:c.*21C>A , LRG_273t1:c.*21C>A	NP_003671.1:n.*21C>A
XM_011542347.1:c.*21C>A	XP_011540649.1:n.*21C>A
XM_011542348.1:c.*21C>A	XP_011540650.1:n.*21C>A
XM_011542347.2:c.*21C>A	XP_011540649.1:n.*21C>A
XM_017002651.2:c.*21C>A	XP_016858140.1:n.*21C>A
NM_003680.4:c.*21C>A MANE Select	NP_003671.1:n.*21C>A