Canonical Allele Identifier: CA8177811

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75644386G>A , CM000678.2:g.75644386G>A	GRCh38
NC_000016.9:g.75678284G>A , CM000678.1:g.75678284G>A	GRCh37
NC_000016.8:g.74235785G>A	NCBI36
NG_028025.1:g.8302C>T , LRG_366:g.8302C>T
NG_051307.2:g.1683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.63-2663C>T MANE Select	ENSP00000303043.3:n.63-2663C>T
ENST00000302445.7:c.63-2663C>T	ENSP00000303043.3:n.63-2663C>T
ENST00000319410.9:c.43C>T	ENSP00000325448.5:p.Arg15Cys
ENST00000562875.5:c.63-2663C>T	ENSP00000456185.1:n.63-2663C>T
ENST00000564578.5:c.43C>T	ENSP00000455818.1:p.Arg15Cys
ENST00000566249.5:c.31-2663C>T
ENST00000566560.5:n.177-2663C>T
ENST00000568378.5:c.43C>T	ENSP00000454512.1:p.Arg15Cys
ENST00000568682.5:c.-489-1551C>T	ENSP00000462057.1:n.-489-1551C>T
ENST00000570215.1:c.43C>T	ENSP00000458028.1:p.Arg15Cys
NM_001130089.1:c.43C>T , LRG_366t1:c.43C>T	NP_001123561.1:p.Arg15Cys
NM_005548.2:c.63-2663C>T	NP_005539.1:n.63-2663C>T
XM_017023217.1:c.-406-2663C>T	XP_016878706.1:n.-406-2663C>T
NM_001130089.2:c.43C>T	NP_001123561.1:p.Arg15Cys
NM_001378148.1:c.-406-2663C>T	NP_001365077.1:n.-406-2663C>T
NM_005548.3:c.63-2663C>T MANE Select	NP_005539.1:n.63-2663C>T