Canonical Allele Identifier: CA396814407

Gene: KARS1

Linked Data

• MyVariant Identifiers: chr16:g.75670412T>C (hg19) ; chr16:g.75636514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636514T>C , CM000678.2:g.75636514T>C	GRCh38
NC_000016.9:g.75670412T>C , CM000678.1:g.75670412T>C	GRCh37
NC_000016.8:g.74227913T>C	NCBI36
NG_028025.1:g.16174A>G , LRG_366:g.16174A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.422A>G MANE Select	ENSP00000303043.3:p.Lys141Arg
ENST00000302445.7:c.422A>G	ENSP00000303043.3:p.Lys141Arg
ENST00000319410.9:c.506A>G	ENSP00000325448.5:p.Lys169Arg
ENST00000562875.5:c.223-416A>G	ENSP00000456185.1:n.223-416A>G
ENST00000564578.5:c.340A>G	ENSP00000455818.1:p.Ser114Gly
ENST00000566249.5:c.224A>G
ENST00000566560.5:n.536A>G
ENST00000568378.5:c.146+7769A>G	ENSP00000454512.1:n.146+7769A>G
ENST00000568682.5:c.-47A>G	ENSP00000462057.1:n.-47A>G
ENST00000570215.1:c.506A>G	ENSP00000458028.1:p.Lys169Arg
NM_001130089.1:c.506A>G , LRG_366t1:c.506A>G	NP_001123561.1:p.Lys169Arg
NM_005548.2:c.422A>G	NP_005539.1:p.Lys141Arg
XM_017023217.1:c.-47A>G	XP_016878706.1:n.-47A>G
NM_001130089.2:c.506A>G	NP_001123561.1:p.Lys169Arg
NM_001378148.1:c.-47A>G	NP_001365077.1:n.-47A>G
NM_005548.3:c.422A>G MANE Select	NP_005539.1:p.Lys141Arg