Canonical Allele Identifier: CA2233454338

Gene: KARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75635982G= , CM000678.2:g.75635982G=	GRCh38
NC_000016.9:g.75669880G= , CM000678.1:g.75669880G=	GRCh37
NC_000016.8:g.74227381G=	NCBI36
NG_028025.1:g.16706C= , LRG_366:g.16706C=

Transcript Alleles

HGVS	Amino-acid Change
NM_005548.3:c.599C= MANE Select	NP_005539.1:p.Pro200=
ENST00000302445.8:c.599C= MANE Select	ENSP00000303043.3:p.Pro200=
NM_001130089.1:c.683C= , LRG_366t1:c.683C=	NP_001123561.1:p.Pro228=
NM_001130089.2:c.683C=	NP_001123561.1:p.Pro228=
NM_001378148.1:c.131C=	NP_001365077.1:p.Pro44=
NM_005548.2:c.599C=	NP_005539.1:p.Pro200=
ENST00000302445.7:c.599C=	ENSP00000303043.3:p.Pro200=
ENST00000319410.9:c.683C=	ENSP00000325448.5:p.Pro228=
ENST00000562875.5:c.*108C=	ENSP00000456185.1:n.*108C=
ENST00000564578.5:c.*142C=	ENSP00000455818.1:n.*142C=
ENST00000566249.5:c.401C=
ENST00000566560.5:n.713C=
ENST00000566772.1:c.92C=	ENSP00000455488.1:p.Pro31=
ENST00000568378.5:c.147-7993C=	ENSP00000454512.1:n.147-7993C=
ENST00000568682.5:c.131C=	ENSP00000462057.1:p.Pro44=
ENST00000570215.1:c.683C=	ENSP00000458028.1:p.Pro228=
XM_017023217.1:c.131C=	XP_016878706.1:p.Pro44=