Canonical Allele Identifier: CA8177364
Gene: KARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439842
dbSNP Id: rs149772470

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75631490C>T , CM000678.2:g.75631490C>T GRCh38
NC_000016.9:g.75665388C>T , CM000678.1:g.75665388C>T GRCh37
NC_000016.8:g.74222889C>T NCBI36
NG_028025.1:g.21198G>A , LRG_366:g.21198G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000302445.8:c.1178G>A MANE Select ENSP00000303043.3:p.Arg393Gln
ENST00000302445.7:c.1178G>A ENSP00000303043.3:p.Arg393Gln
ENST00000319410.9:c.1262G>A ENSP00000325448.5:p.Arg421Gln
ENST00000564578.5:c.*721G>A ENSP00000455818.1:n.*721G>A
ENST00000568378.5:c.147-3501G>A ENSP00000454512.1:n.147-3501G>A
NM_001130089.1:c.1262G>A , LRG_366t1:c.1262G>A NP_001123561.1:p.Arg421Gln
NM_005548.2:c.1178G>A NP_005539.1:p.Arg393Gln
XM_017023217.1:c.710G>A XP_016878706.1:p.Arg237Gln
NM_001130089.2:c.1262G>A NP_001123561.1:p.Arg421Gln
NM_001378148.1:c.710G>A NP_001365077.1:p.Arg237Gln
NM_005548.3:c.1178G>A MANE Select NP_005539.1:p.Arg393Gln