Canonical Allele Identifier: CA8177364

Gene: KARS1

Linked Data

• ClinVar Variation Id: 439842
• ClinVar RCV Id: RCV000506064 ; RCV000625381 ; RCV001375150 ; RCV004541585 ; RCV000755555
• dbSNP Id: rs149772470
• ExAC: 16:75665388 C / T
• gnomAD v2: 16-75665388-C-T
• gnomAD v3: 16-75631490-C-T
• gnomAD v4: 16-75631490-C-T
• MyVariant Identifiers: chr16:g.75665388C>T (hg19) ; chr16:g.75631490C>T (hg38)

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