Canonical Allele Identifier: CA8177718

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75641561C>T , CM000678.2:g.75641561C>T	GRCh38
NC_000016.9:g.75675459C>T , CM000678.1:g.75675459C>T	GRCh37
NC_000016.8:g.74232960C>T	NCBI36
NG_028025.1:g.11127G>A , LRG_366:g.11127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.222+3G>A MANE Select	ENSP00000303043.3:n.222+3G>A
ENST00000302445.7:c.222+3G>A	ENSP00000303043.3:n.222+3G>A
ENST00000319410.9:c.306+3G>A	ENSP00000325448.5:n.306+3G>A
ENST00000562875.5:c.222+3G>A	ENSP00000456185.1:n.222+3G>A
ENST00000564578.5:c.306+3G>A	ENSP00000455818.1:n.306+3G>A
ENST00000565738.1:n.39+3G>A
ENST00000566249.5:c.190+3G>A
ENST00000566560.5:n.336+3G>A
ENST00000568378.5:c.146+2722G>A	ENSP00000454512.1:n.146+2722G>A
ENST00000568682.5:c.-247+3G>A	ENSP00000462057.1:n.-247+3G>A
ENST00000570215.1:c.306+3G>A	ENSP00000458028.1:n.306+3G>A
NM_001130089.1:c.306+3G>A , LRG_366t1:c.306+3G>A	NP_001123561.1:n.306+3G>A
NM_005548.2:c.222+3G>A	NP_005539.1:n.222+3G>A
XM_017023217.1:c.-247+3G>A	XP_016878706.1:n.-247+3G>A
NM_001130089.2:c.306+3G>A	NP_001123561.1:n.306+3G>A
NM_001378148.1:c.-247+3G>A	NP_001365077.1:n.-247+3G>A
NM_005548.3:c.222+3G>A MANE Select	NP_005539.1:n.222+3G>A