Canonical Allele Identifier: CA496583964

Gene: KARS1

Linked Data

• MyVariant Identifiers: chr16:g.75670414T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636516T>C , CM000678.2:g.75636516T>C	GRCh38
NC_000016.9:g.75670414T>C , CM000678.1:g.75670414T>C	GRCh37
NC_000016.8:g.74227915T>C	NCBI36
NG_028025.1:g.16172A>G , LRG_366:g.16172A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000302445.8:c.420A>G MANE Select	ENSP00000303043.3:p.Gly140=
ENST00000302445.7:c.420A>G	ENSP00000303043.3:p.Gly140=
ENST00000319410.9:c.504A>G	ENSP00000325448.5:p.Gly168=
ENST00000562875.5:c.223-418A>G	ENSP00000456185.1:n.223-418A>G
ENST00000564578.5:c.338A>G	ENSP00000455818.1:p.Glu113Gly
ENST00000566249.5:c.222A>G
ENST00000566560.5:n.534A>G
ENST00000568378.5:c.146+7767A>G	ENSP00000454512.1:n.146+7767A>G
ENST00000568682.5:c.-49A>G	ENSP00000462057.1:n.-49A>G
ENST00000570215.1:c.504A>G	ENSP00000458028.1:p.Gly168=
NM_001130089.1:c.504A>G , LRG_366t1:c.504A>G	NP_001123561.1:p.Gly168=
NM_005548.2:c.420A>G	NP_005539.1:p.Gly140=
XM_017023217.1:c.-49A>G	XP_016878706.1:n.-49A>G
NM_001130089.2:c.504A>G	NP_001123561.1:p.Gly168=
NM_001378148.1:c.-49A>G	NP_001365077.1:n.-49A>G
NM_005548.3:c.420A>G MANE Select	NP_005539.1:p.Gly140=