Canonical Allele Identifier: CA8177420

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631792T>C , CM000678.2:g.75631792T>C	GRCh38
NC_000016.9:g.75665690T>C , CM000678.1:g.75665690T>C	GRCh37
NC_000016.8:g.74223191T>C	NCBI36
NG_028025.1:g.20896A>G , LRG_366:g.20896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.979A>G MANE Select	ENSP00000303043.3:p.Ile327Val
ENST00000302445.7:c.979A>G	ENSP00000303043.3:p.Ile327Val
ENST00000319410.9:c.1063A>G	ENSP00000325448.5:p.Ile355Val
ENST00000562875.5:c.*488A>G	ENSP00000456185.1:n.*488A>G
ENST00000564578.5:c.*522A>G	ENSP00000455818.1:n.*522A>G
ENST00000568378.5:c.147-3803A>G	ENSP00000454512.1:n.147-3803A>G
NM_001130089.1:c.1063A>G , LRG_366t1:c.1063A>G	NP_001123561.1:p.Ile355Val
NM_005548.2:c.979A>G	NP_005539.1:p.Ile327Val
XM_017023217.1:c.511A>G	XP_016878706.1:p.Ile171Val
NM_001130089.2:c.1063A>G	NP_001123561.1:p.Ile355Val
NM_001378148.1:c.511A>G	NP_001365077.1:p.Ile171Val
NM_005548.3:c.979A>G MANE Select	NP_005539.1:p.Ile327Val