Canonical Allele Identifier: CA396814377

Gene: KARS1

Linked Data

• dbSNP Id: rs2151806225
• MyVariant Identifiers: chr16:g.75670405G>C (hg19) ; chr16:g.75636507G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636507G>C , CM000678.2:g.75636507G>C	GRCh38
NC_000016.9:g.75670405G>C , CM000678.1:g.75670405G>C	GRCh37
NC_000016.8:g.74227906G>C	NCBI36
NG_028025.1:g.16181C>G , LRG_366:g.16181C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.429C>G MANE Select	ENSP00000303043.3:p.Ile143Met
ENST00000302445.7:c.429C>G	ENSP00000303043.3:p.Ile143Met
ENST00000319410.9:c.513C>G	ENSP00000325448.5:p.Ile171Met
ENST00000562875.5:c.223-409C>G	ENSP00000456185.1:n.223-409C>G
ENST00000564578.5:c.347C>G	ENSP00000455818.1:p.Ser116Cys
ENST00000566249.5:c.231C>G
ENST00000566560.5:n.543C>G
ENST00000568378.5:c.146+7776C>G	ENSP00000454512.1:n.146+7776C>G
ENST00000568682.5:c.-40C>G	ENSP00000462057.1:n.-40C>G
ENST00000570215.1:c.513C>G	ENSP00000458028.1:p.Ile171Met
NM_001130089.1:c.513C>G , LRG_366t1:c.513C>G	NP_001123561.1:p.Ile171Met
NM_005548.2:c.429C>G	NP_005539.1:p.Ile143Met
XM_017023217.1:c.-40C>G	XP_016878706.1:n.-40C>G
NM_001130089.2:c.513C>G	NP_001123561.1:p.Ile171Met
NM_001378148.1:c.-40C>G	NP_001365077.1:n.-40C>G
NM_005548.3:c.429C>G MANE Select	NP_005539.1:p.Ile143Met