Canonical Allele Identifier: CA8177565

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75635969T>C , CM000678.2:g.75635969T>C	GRCh38
NC_000016.9:g.75669867T>C , CM000678.1:g.75669867T>C	GRCh37
NC_000016.8:g.74227368T>C	NCBI36
NG_028025.1:g.16719A>G , LRG_366:g.16719A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.612A>G MANE Select	ENSP00000303043.3:p.Thr204=
ENST00000302445.7:c.612A>G	ENSP00000303043.3:p.Thr204=
ENST00000319410.9:c.696A>G	ENSP00000325448.5:p.Thr232=
ENST00000562875.5:c.*121A>G	ENSP00000456185.1:n.*121A>G
ENST00000564578.5:c.*155A>G	ENSP00000455818.1:n.*155A>G
ENST00000566249.5:c.414A>G
ENST00000566560.5:n.726A>G
ENST00000566772.1:c.105A>G	ENSP00000455488.1:p.Thr35=
ENST00000568378.5:c.147-7980A>G	ENSP00000454512.1:n.147-7980A>G
ENST00000568682.5:c.144A>G	ENSP00000462057.1:p.Thr48=
ENST00000570215.1:c.696A>G	ENSP00000458028.1:p.Thr232=
NM_001130089.1:c.696A>G , LRG_366t1:c.696A>G	NP_001123561.1:p.Thr232=
NM_005548.2:c.612A>G	NP_005539.1:p.Thr204=
XM_017023217.1:c.144A>G	XP_016878706.1:p.Thr48=
NM_001130089.2:c.696A>G	NP_001123561.1:p.Thr232=
NM_001378148.1:c.144A>G	NP_001365077.1:p.Thr48=
NM_005548.3:c.612A>G MANE Select	NP_005539.1:p.Thr204=