Canonical Allele Identifier: CA744942

Gene: YARS1

Linked Data

• dbSNP Id: rs141675786
• ExAC: 1:33245763 C / A
• gnomAD v2: 1-33245763-C-A
• gnomAD v4: 1-32780162-C-A
• MyVariant Identifiers: chr1:g.33245763C>A (hg19) ; chr1:g.32780162C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780162C>A , CM000663.2:g.32780162C>A	GRCh38
NC_000001.10:g.33245763C>A , CM000663.1:g.33245763C>A	GRCh37
NC_000001.9:g.33018350C>A	NCBI36
NG_008408.1:g.42871G>T , LRG_273:g.42871G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1110G>T	ENSP00000502019.1:p.Leu370=
ENST00000373477.9:c.1257G>T MANE Select	ENSP00000362576.4:p.Leu419=
ENST00000674629.1:c.*805G>T	ENSP00000502470.1:n.*805G>T
ENST00000674654.1:c.*1217G>T	ENSP00000501729.1:n.*1217G>T
ENST00000675785.1:c.1110G>T	ENSP00000502019.1:p.Leu370=
ENST00000676297.1:c.*1431G>T	ENSP00000501596.1:n.*1431G>T
ENST00000373477.8:c.1257G>T	ENSP00000362576.4:p.Leu419=
ENST00000469100.5:n.1173G>T
ENST00000478828.1:n.724G>T
ENST00000487404.5:n.1567G>T
ENST00000490826.1:n.550G>T
NM_003680.3:c.1257G>T , LRG_273t1:c.1257G>T	NP_003671.1:p.Leu419=
XM_011542347.1:c.627G>T	XP_011540649.1:p.Leu209=
XM_011542348.1:c.627G>T	XP_011540650.1:p.Leu209=
XM_011542347.2:c.627G>T	XP_011540649.1:p.Leu209=
XM_017002651.2:c.627G>T	XP_016858140.1:p.Leu209=
NM_003680.4:c.1257G>T MANE Select	NP_003671.1:p.Leu419=