Canonical Allele Identifier: CA284322156

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75635688A>C , CM000678.2:g.75635688A>C	GRCh38
NC_000016.9:g.75669586A>C , CM000678.1:g.75669586A>C	GRCh37
NC_000016.8:g.74227087A>C	NCBI36
NG_028025.1:g.17000T>G , LRG_366:g.17000T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005548.3:c.787T>G MANE Select	NP_005539.1:p.Phe263Val
ENST00000302445.8:c.787T>G MANE Select	ENSP00000303043.3:p.Phe263Val
NM_001130089.1:c.871T>G , LRG_366t1:c.871T>G	NP_001123561.1:p.Phe291Val
NM_001130089.2:c.871T>G	NP_001123561.1:p.Phe291Val
NM_001378148.1:c.319T>G	NP_001365077.1:p.Phe107Val
NM_005548.2:c.787T>G	NP_005539.1:p.Phe263Val
ENST00000302445.7:c.787T>G	ENSP00000303043.3:p.Phe263Val
ENST00000319410.9:c.871T>G	ENSP00000325448.5:p.Phe291Val
ENST00000562875.5:c.*296T>G	ENSP00000456185.1:n.*296T>G
ENST00000564578.5:c.*330T>G	ENSP00000455818.1:n.*330T>G
ENST00000566249.5:c.589T>G
ENST00000566560.5:n.901T>G
ENST00000566772.1:c.280T>G	ENSP00000455488.1:p.Phe94Val
ENST00000568378.5:c.147-7699T>G	ENSP00000454512.1:n.147-7699T>G
XM_017023217.1:c.319T>G	XP_016878706.1:p.Phe107Val