Canonical Allele Identifier: CA2233458672

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75640258A= , CM000678.2:g.75640258A=	GRCh38
NC_000016.9:g.75674156A= , CM000678.1:g.75674156A=	GRCh37
NC_000016.8:g.74231657A=	NCBI36
NG_028025.1:g.12430T= , LRG_366:g.12430T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.314T= MANE Select	ENSP00000303043.3:p.Leu105=
ENST00000302445.7:c.314T=	ENSP00000303043.3:p.Leu105=
ENST00000319410.9:c.398T=	ENSP00000325448.5:p.Leu133=
ENST00000562875.5:c.222+1306T=	ENSP00000456185.1:n.222+1306T=
ENST00000564578.5:c.306+1306T=	ENSP00000455818.1:n.306+1306T=
ENST00000565738.1:n.131T=
ENST00000566249.5:c.190+1306T=
ENST00000566560.5:n.428T=
ENST00000568378.5:c.146+4025T=	ENSP00000454512.1:n.146+4025T=
ENST00000568682.5:c.-155T=	ENSP00000462057.1:n.-155T=
ENST00000570215.1:c.398T=	ENSP00000458028.1:p.Leu133=
NM_001130089.1:c.398T= , LRG_366t1:c.398T=	NP_001123561.1:p.Leu133=
NM_005548.2:c.314T=	NP_005539.1:p.Leu105=
XM_017023217.1:c.-155T=	XP_016878706.1:n.-155T=
NM_001130089.2:c.398T=	NP_001123561.1:p.Leu133=
NM_001378148.1:c.-155T=	NP_001365077.1:n.-155T=
NM_005548.3:c.314T= MANE Select	NP_005539.1:p.Leu105=