Canonical Allele Identifier: CA2233449786

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75631726C= , CM000678.2:g.75631726C=	GRCh38
NC_000016.9:g.75665624C= , CM000678.1:g.75665624C=	GRCh37
NC_000016.8:g.74223125C=	NCBI36
NG_028025.1:g.20962G= , LRG_366:g.20962G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.1045G= MANE Select	ENSP00000303043.3:p.Asp349=
ENST00000302445.7:c.1045G=	ENSP00000303043.3:p.Asp349=
ENST00000319410.9:c.1129G=	ENSP00000325448.5:p.Asp377=
ENST00000562875.5:c.*554G=	ENSP00000456185.1:n.*554G=
ENST00000564578.5:c.*588G=	ENSP00000455818.1:n.*588G=
ENST00000568378.5:c.147-3737G=	ENSP00000454512.1:n.147-3737G=
NM_001130089.1:c.1129G= , LRG_366t1:c.1129G=	NP_001123561.1:p.Asp377=
NM_005548.2:c.1045G=	NP_005539.1:p.Asp349=
XM_017023217.1:c.577G=	XP_016878706.1:p.Asp193=
NM_001130089.2:c.1129G=	NP_001123561.1:p.Asp377=
NM_001378148.1:c.577G=	NP_001365077.1:p.Asp193=
NM_005548.3:c.1045G= MANE Select	NP_005539.1:p.Asp349=