Canonical Allele Identifier: CA8177679

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75640298C>G , CM000678.2:g.75640298C>G	GRCh38
NC_000016.9:g.75674196C>G , CM000678.1:g.75674196C>G	GRCh37
NC_000016.8:g.74231697C>G	NCBI36
NG_028025.1:g.12390G>C , LRG_366:g.12390G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.274G>C MANE Select	ENSP00000303043.3:p.Glu92Gln
ENST00000302445.7:c.274G>C	ENSP00000303043.3:p.Glu92Gln
ENST00000319410.9:c.358G>C	ENSP00000325448.5:p.Glu120Gln
ENST00000562875.5:c.222+1266G>C	ENSP00000456185.1:n.222+1266G>C
ENST00000564578.5:c.306+1266G>C	ENSP00000455818.1:n.306+1266G>C
ENST00000565738.1:n.91G>C
ENST00000566249.5:c.190+1266G>C
ENST00000566560.5:n.388G>C
ENST00000568378.5:c.146+3985G>C	ENSP00000454512.1:n.146+3985G>C
ENST00000568682.5:c.-195G>C	ENSP00000462057.1:n.-195G>C
ENST00000570215.1:c.358G>C	ENSP00000458028.1:p.Glu120Gln
NM_001130089.1:c.358G>C , LRG_366t1:c.358G>C	NP_001123561.1:p.Glu120Gln
NM_005548.2:c.274G>C	NP_005539.1:p.Glu92Gln
XM_017023217.1:c.-195G>C	XP_016878706.1:n.-195G>C
NM_001130089.2:c.358G>C	NP_001123561.1:p.Glu120Gln
NM_001378148.1:c.-195G>C	NP_001365077.1:n.-195G>C
NM_005548.3:c.274G>C MANE Select	NP_005539.1:p.Glu92Gln