Canonical Allele Identifier: CA2233454733
Gene: KARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.75636419C= , CM000678.2:g.75636419C= GRCh38
NC_000016.9:g.75670317C= , CM000678.1:g.75670317C= GRCh37
NC_000016.8:g.74227818C= NCBI36
NG_028025.1:g.16269G= , LRG_366:g.16269G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000302445.8:c.482+35G= MANE Select ENSP00000303043.3:n.482+35G=
ENST00000302445.7:c.482+35G= ENSP00000303043.3:n.482+35G=
ENST00000319410.9:c.566+35G= ENSP00000325448.5:n.566+35G=
ENST00000562875.5:c.223-321G= ENSP00000456185.1:n.223-321G=
ENST00000564578.5:c.*25+35G= ENSP00000455818.1:n.*25+35G=
ENST00000566249.5:c.284+35G=
ENST00000566560.5:n.596+35G=
ENST00000568378.5:c.146+7864G= ENSP00000454512.1:n.146+7864G=
ENST00000568682.5:c.14+35G= ENSP00000462057.1:n.14+35G=
ENST00000570215.1:c.566+35G= ENSP00000458028.1:n.566+35G=
NM_001130089.1:c.566+35G= , LRG_366t1:c.566+35G= NP_001123561.1:n.566+35G=
NM_005548.2:c.482+35G= NP_005539.1:n.482+35G=
XM_017023217.1:c.14+35G= XP_016878706.1:n.14+35G=
NM_001130089.2:c.566+35G= NP_001123561.1:n.566+35G=
NM_001378148.1:c.14+35G= NP_001365077.1:n.14+35G=
NM_005548.3:c.482+35G= MANE Select NP_005539.1:n.482+35G=