Canonical Allele Identifier: CA2233454852

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636510G= , CM000678.2:g.75636510G=	GRCh38
NC_000016.9:g.75670408G= , CM000678.1:g.75670408G=	GRCh37
NC_000016.8:g.74227909G=	NCBI36
NG_028025.1:g.16178C= , LRG_366:g.16178C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000302445.8:c.426C= MANE Select	ENSP00000303043.3:p.Leu142=
ENST00000302445.7:c.426C=	ENSP00000303043.3:p.Leu142=
ENST00000319410.9:c.510C=	ENSP00000325448.5:p.Leu170=
ENST00000562875.5:c.223-412C=	ENSP00000456185.1:n.223-412C=
ENST00000564578.5:c.344C=	ENSP00000455818.1:p.Ser115=
ENST00000566249.5:c.228C=
ENST00000566560.5:n.540C=
ENST00000568378.5:c.146+7773C=	ENSP00000454512.1:n.146+7773C=
ENST00000568682.5:c.-43C=	ENSP00000462057.1:n.-43C=
ENST00000570215.1:c.510C=	ENSP00000458028.1:p.Leu170=
NM_001130089.1:c.510C= , LRG_366t1:c.510C=	NP_001123561.1:p.Leu170=
NM_005548.2:c.426C=	NP_005539.1:p.Leu142=
XM_017023217.1:c.-43C=	XP_016878706.1:n.-43C=
NM_001130089.2:c.510C=	NP_001123561.1:p.Leu170=
NM_001378148.1:c.-43C=	NP_001365077.1:n.-43C=
NM_005548.3:c.426C= MANE Select	NP_005539.1:p.Leu142=