Canonical Allele Identifier: CA2233465640
Gene: KARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75647618C= , CM000678.2:g.75647618C= GRCh38
NC_000016.9:g.75681516C= , CM000678.1:g.75681516C= GRCh37
NC_000016.8:g.74239017C= NCBI36
NG_028025.1:g.5070G= , LRG_366:g.5070G=
NG_051307.2:g.4915C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302445.8:c.22G= MANE Select ENSP00000303043.3:p.Glu8=
ENST00000302445.7:c.22G= ENSP00000303043.3:p.Glu8=
ENST00000319410.9:c.-75G= ENSP00000325448.5:n.-75G=
ENST00000562875.5:c.22G= ENSP00000456185.1:p.Glu8=
ENST00000564578.5:c.-75G= ENSP00000455818.1:n.-75G=
ENST00000566560.5:n.176+850G=
ENST00000568378.5:c.-75G= ENSP00000454512.1:n.-75G=
ENST00000568682.5:c.-530G= ENSP00000462057.1:n.-530G=
ENST00000570215.1:c.-189G= ENSP00000458028.1:n.-189G=
NM_001130089.1:c.-75G= , LRG_366t1:c.-75G= NP_001123561.1:n.-75G=
NM_005548.2:c.22G= NP_005539.1:p.Glu8=
XM_017023217.1:c.-561G= XP_016878706.1:n.-561G=
NM_001130089.2:c.-75G= NP_001123561.1:n.-75G=
NM_001378148.1:c.-561G= NP_001365077.1:n.-561G=
NM_005548.3:c.22G= MANE Select NP_005539.1:p.Glu8=