Canonical Allele Identifier: CA339681646

Gene: YARS1

Linked Data

• dbSNP Id: rs1246131981
• gnomAD v2: 1-33245807-C-T
• gnomAD v3: 1-32780206-C-T
• gnomAD v4: 1-32780206-C-T
• MyVariant Identifiers: chr1:g.33245807C>T (hg19) ; chr1:g.32780206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780206C>T , CM000663.2:g.32780206C>T	GRCh38
NC_000001.10:g.33245807C>T , CM000663.1:g.33245807C>T	GRCh37
NC_000001.9:g.33018394C>T	NCBI36
NG_008408.1:g.42827G>A , LRG_273:g.42827G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1066G>A	ENSP00000502019.1:p.Gly356Ser
ENST00000373477.9:c.1213G>A MANE Select	ENSP00000362576.4:p.Gly405Ser
ENST00000674629.1:c.*761G>A	ENSP00000502470.1:n.*761G>A
ENST00000674654.1:c.*1173G>A	ENSP00000501729.1:n.*1173G>A
ENST00000675785.1:c.1066G>A	ENSP00000502019.1:p.Gly356Ser
ENST00000676297.1:c.*1387G>A	ENSP00000501596.1:n.*1387G>A
ENST00000373477.8:c.1213G>A	ENSP00000362576.4:p.Gly405Ser
ENST00000469100.5:n.1129G>A
ENST00000478828.1:n.680G>A
ENST00000487404.5:n.1523G>A
ENST00000490826.1:n.506G>A
NM_003680.3:c.1213G>A , LRG_273t1:c.1213G>A	NP_003671.1:p.Gly405Ser
XM_011542347.1:c.583G>A	XP_011540649.1:p.Gly195Ser
XM_011542348.1:c.583G>A	XP_011540650.1:p.Gly195Ser
XM_011542347.2:c.583G>A	XP_011540649.1:p.Gly195Ser
XM_017002651.2:c.583G>A	XP_016858140.1:p.Gly195Ser
NM_003680.4:c.1213G>A MANE Select	NP_003671.1:p.Gly405Ser