Canonical Allele Identifier: CA396816971

Gene: KARS1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75647618C>G , CM000678.2:g.75647618C>G	GRCh38
NC_000016.9:g.75681516C>G , CM000678.1:g.75681516C>G	GRCh37
NC_000016.8:g.74239017C>G	NCBI36
NG_028025.1:g.5070G>C , LRG_366:g.5070G>C
NG_051307.2:g.4915C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.22G>C MANE Select	ENSP00000303043.3:p.Glu8Gln
ENST00000302445.7:c.22G>C	ENSP00000303043.3:p.Glu8Gln
ENST00000319410.9:c.-75G>C	ENSP00000325448.5:n.-75G>C
ENST00000562875.5:c.22G>C	ENSP00000456185.1:p.Glu8Gln
ENST00000564578.5:c.-75G>C	ENSP00000455818.1:n.-75G>C
ENST00000566560.5:n.176+850G>C
ENST00000568378.5:c.-75G>C	ENSP00000454512.1:n.-75G>C
ENST00000568682.5:c.-530G>C	ENSP00000462057.1:n.-530G>C
ENST00000570215.1:c.-189G>C	ENSP00000458028.1:n.-189G>C
NM_001130089.1:c.-75G>C , LRG_366t1:c.-75G>C	NP_001123561.1:n.-75G>C
NM_005548.2:c.22G>C	NP_005539.1:p.Glu8Gln
XM_017023217.1:c.-561G>C	XP_016878706.1:n.-561G>C
NM_001130089.2:c.-75G>C	NP_001123561.1:n.-75G>C
NM_001378148.1:c.-561G>C	NP_001365077.1:n.-561G>C
NM_005548.3:c.22G>C MANE Select	NP_005539.1:p.Glu8Gln