Canonical Allele Identifier: CA396814420

Gene: KARS1

Linked Data

• MyVariant Identifiers: chr16:g.75670416C>G (hg19) ; chr16:g.75636518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636518C>G , CM000678.2:g.75636518C>G	GRCh38
NC_000016.9:g.75670416C>G , CM000678.1:g.75670416C>G	GRCh37
NC_000016.8:g.74227917C>G	NCBI36
NG_028025.1:g.16170G>C , LRG_366:g.16170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.418G>C MANE Select	ENSP00000303043.3:p.Gly140Arg
ENST00000302445.7:c.418G>C	ENSP00000303043.3:p.Gly140Arg
ENST00000319410.9:c.502G>C	ENSP00000325448.5:p.Gly168Arg
ENST00000562875.5:c.223-420G>C	ENSP00000456185.1:n.223-420G>C
ENST00000564578.5:c.336G>C	ENSP00000455818.1:p.Gly112=
ENST00000566249.5:c.220G>C
ENST00000566560.5:n.532G>C
ENST00000568378.5:c.146+7765G>C	ENSP00000454512.1:n.146+7765G>C
ENST00000568682.5:c.-51G>C	ENSP00000462057.1:n.-51G>C
ENST00000570215.1:c.502G>C	ENSP00000458028.1:p.Gly168Arg
NM_001130089.1:c.502G>C , LRG_366t1:c.502G>C	NP_001123561.1:p.Gly168Arg
NM_005548.2:c.418G>C	NP_005539.1:p.Gly140Arg
XM_017023217.1:c.-51G>C	XP_016878706.1:n.-51G>C
NM_001130089.2:c.502G>C	NP_001123561.1:p.Gly168Arg
NM_001378148.1:c.-51G>C	NP_001365077.1:n.-51G>C
NM_005548.3:c.418G>C MANE Select	NP_005539.1:p.Gly140Arg