Canonical Allele Identifier: CA339681760

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245834C>T (hg19) ; chr1:g.32780233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780233C>T , CM000663.2:g.32780233C>T	GRCh38
NC_000001.10:g.33245834C>T , CM000663.1:g.33245834C>T	GRCh37
NC_000001.9:g.33018421C>T	NCBI36
NG_008408.1:g.42800G>A , LRG_273:g.42800G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1039G>A	ENSP00000502019.1:p.Glu347Lys
ENST00000373477.9:c.1186G>A MANE Select	ENSP00000362576.4:p.Glu396Lys
ENST00000674629.1:c.*734G>A	ENSP00000502470.1:n.*734G>A
ENST00000674654.1:c.*1146G>A	ENSP00000501729.1:n.*1146G>A
ENST00000675785.1:c.1039G>A	ENSP00000502019.1:p.Glu347Lys
ENST00000676297.1:c.*1360G>A	ENSP00000501596.1:n.*1360G>A
ENST00000373477.8:c.1186G>A	ENSP00000362576.4:p.Glu396Lys
ENST00000469100.5:n.1102G>A
ENST00000478828.1:n.653G>A
ENST00000487404.5:n.1496G>A
ENST00000490826.1:n.479G>A
NM_003680.3:c.1186G>A , LRG_273t1:c.1186G>A	NP_003671.1:p.Glu396Lys
XM_011542347.1:c.556G>A	XP_011540649.1:p.Glu186Lys
XM_011542348.1:c.556G>A	XP_011540650.1:p.Glu186Lys
XM_011542347.2:c.556G>A	XP_011540649.1:p.Glu186Lys
XM_017002651.2:c.556G>A	XP_016858140.1:p.Glu186Lys
NM_003680.4:c.1186G>A MANE Select	NP_003671.1:p.Glu396Lys