Canonical Allele Identifier: CA2634368435

Gene: KARS1

Linked Data

• gnomAD v4: 16-75636424-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636424A>C , CM000678.2:g.75636424A>C	GRCh38
NC_000016.9:g.75670322A>C , CM000678.1:g.75670322A>C	GRCh37
NC_000016.8:g.74227823A>C	NCBI36
NG_028025.1:g.16264T>G , LRG_366:g.16264T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302445.8:c.482+30T>G MANE Select	ENSP00000303043.3:n.482+30T>G
ENST00000302445.7:c.482+30T>G	ENSP00000303043.3:n.482+30T>G
ENST00000319410.9:c.566+30T>G	ENSP00000325448.5:n.566+30T>G
ENST00000562875.5:c.223-326T>G	ENSP00000456185.1:n.223-326T>G
ENST00000564578.5:c.*25+30T>G	ENSP00000455818.1:n.*25+30T>G
ENST00000566249.5:c.284+30T>G
ENST00000566560.5:n.596+30T>G
ENST00000568378.5:c.146+7859T>G	ENSP00000454512.1:n.146+7859T>G
ENST00000568682.5:c.14+30T>G	ENSP00000462057.1:n.14+30T>G
ENST00000570215.1:c.566+30T>G	ENSP00000458028.1:n.566+30T>G
NM_001130089.1:c.566+30T>G , LRG_366t1:c.566+30T>G	NP_001123561.1:n.566+30T>G
NM_005548.2:c.482+30T>G	NP_005539.1:n.482+30T>G
XM_017023217.1:c.14+30T>G	XP_016878706.1:n.14+30T>G
NM_001130089.2:c.566+30T>G	NP_001123561.1:n.566+30T>G
NM_001378148.1:c.14+30T>G	NP_001365077.1:n.14+30T>G
NM_005548.3:c.482+30T>G MANE Select	NP_005539.1:n.482+30T>G