Canonical Allele Identifier: CA2233454738

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636432A= , CM000678.2:g.75636432A=	GRCh38
NC_000016.9:g.75670330A= , CM000678.1:g.75670330A=	GRCh37
NC_000016.8:g.74227831A=	NCBI36
NG_028025.1:g.16256T= , LRG_366:g.16256T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.482+22T= MANE Select	ENSP00000303043.3:n.482+22T=
ENST00000302445.7:c.482+22T=	ENSP00000303043.3:n.482+22T=
ENST00000319410.9:c.566+22T=	ENSP00000325448.5:n.566+22T=
ENST00000562875.5:c.223-334T=	ENSP00000456185.1:n.223-334T=
ENST00000564578.5:c.*25+22T=	ENSP00000455818.1:n.*25+22T=
ENST00000566249.5:c.284+22T=
ENST00000566560.5:n.596+22T=
ENST00000568378.5:c.146+7851T=	ENSP00000454512.1:n.146+7851T=
ENST00000568682.5:c.14+22T=	ENSP00000462057.1:n.14+22T=
ENST00000570215.1:c.566+22T=	ENSP00000458028.1:n.566+22T=
NM_001130089.1:c.566+22T= , LRG_366t1:c.566+22T=	NP_001123561.1:n.566+22T=
NM_005548.2:c.482+22T=	NP_005539.1:n.482+22T=
XM_017023217.1:c.14+22T=	XP_016878706.1:n.14+22T=
NM_001130089.2:c.566+22T=	NP_001123561.1:n.566+22T=
NM_001378148.1:c.14+22T=	NP_001365077.1:n.14+22T=
NM_005548.3:c.482+22T= MANE Select	NP_005539.1:n.482+22T=