Canonical Allele Identifier: CA396814399

Gene: KARS1

Linked Data

• MyVariant Identifiers: chr16:g.75670409A>T (hg19) ; chr16:g.75636511A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636511A>T , CM000678.2:g.75636511A>T	GRCh38
NC_000016.9:g.75670409A>T , CM000678.1:g.75670409A>T	GRCh37
NC_000016.8:g.74227910A>T	NCBI36
NG_028025.1:g.16177T>A , LRG_366:g.16177T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.425T>A MANE Select	ENSP00000303043.3:p.Leu142His
ENST00000302445.7:c.425T>A	ENSP00000303043.3:p.Leu142His
ENST00000319410.9:c.509T>A	ENSP00000325448.5:p.Leu170His
ENST00000562875.5:c.223-413T>A	ENSP00000456185.1:n.223-413T>A
ENST00000564578.5:c.343T>A	ENSP00000455818.1:p.Ser115Thr
ENST00000566249.5:c.227T>A
ENST00000566560.5:n.539T>A
ENST00000568378.5:c.146+7772T>A	ENSP00000454512.1:n.146+7772T>A
ENST00000568682.5:c.-44T>A	ENSP00000462057.1:n.-44T>A
ENST00000570215.1:c.509T>A	ENSP00000458028.1:p.Leu170His
NM_001130089.1:c.509T>A , LRG_366t1:c.509T>A	NP_001123561.1:p.Leu170His
NM_005548.2:c.425T>A	NP_005539.1:p.Leu142His
XM_017023217.1:c.-44T>A	XP_016878706.1:n.-44T>A
NM_001130089.2:c.509T>A	NP_001123561.1:p.Leu170His
NM_001378148.1:c.-44T>A	NP_001365077.1:n.-44T>A
NM_005548.3:c.425T>A MANE Select	NP_005539.1:p.Leu142His