Canonical Allele Identifier: CA284322390

Gene: KARS1

Linked Data

• dbSNP Id: rs1012249153
• MyVariant Identifiers: chr16:g.75670411C>A (hg19) ; chr16:g.75636513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636513C>A , CM000678.2:g.75636513C>A	GRCh38
NC_000016.9:g.75670411C>A , CM000678.1:g.75670411C>A	GRCh37
NC_000016.8:g.74227912C>A	NCBI36
NG_028025.1:g.16175G>T , LRG_366:g.16175G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.423G>T MANE Select	ENSP00000303043.3:p.Lys141Asn
ENST00000302445.7:c.423G>T	ENSP00000303043.3:p.Lys141Asn
ENST00000319410.9:c.507G>T	ENSP00000325448.5:p.Lys169Asn
ENST00000562875.5:c.223-415G>T	ENSP00000456185.1:n.223-415G>T
ENST00000564578.5:c.341G>T	ENSP00000455818.1:p.Ser114Ile
ENST00000566249.5:c.225G>T
ENST00000566560.5:n.537G>T
ENST00000568378.5:c.146+7770G>T	ENSP00000454512.1:n.146+7770G>T
ENST00000568682.5:c.-46G>T	ENSP00000462057.1:n.-46G>T
ENST00000570215.1:c.507G>T	ENSP00000458028.1:p.Lys169Asn
NM_001130089.1:c.507G>T , LRG_366t1:c.507G>T	NP_001123561.1:p.Lys169Asn
NM_005548.2:c.423G>T	NP_005539.1:p.Lys141Asn
XM_017023217.1:c.-46G>T	XP_016878706.1:n.-46G>T
NM_001130089.2:c.507G>T	NP_001123561.1:p.Lys169Asn
NM_001378148.1:c.-46G>T	NP_001365077.1:n.-46G>T
NM_005548.3:c.423G>T MANE Select	NP_005539.1:p.Lys141Asn