Canonical Allele Identifier: CA144648

Gene: KARS1

Linked Data

• ClinVar Variation Id: 60752
• ClinVar RCV Id: RCV000054525 ; RCV000627042 ; RCV001807772
• dbSNP Id: rs397514745
• ExAC: 16:75670401 A / G
• gnomAD v2: 16-75670401-A-G
• gnomAD v4: 16-75636503-A-G
• MyVariant Identifiers: chr16:g.75670401A>G (hg19) ; chr16:g.75636503A>G (hg38)
• PubMed: PMID:21181198 ; PMID:23768514 ; PMID:24824130

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.75636503A>G , CM000678.2:g.75636503A>G	GRCh38
NC_000016.9:g.75670401A>G , CM000678.1:g.75670401A>G	GRCh37
NC_000016.8:g.74227902A>G	NCBI36
NG_028025.1:g.16185T>C , LRG_366:g.16185T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302445.8:c.433T>C MANE Select	ENSP00000303043.3:p.Tyr145His
ENST00000302445.7:c.433T>C	ENSP00000303043.3:p.Tyr145His
ENST00000319410.9:c.517T>C	ENSP00000325448.5:p.Tyr173His
ENST00000562875.5:c.223-405T>C	ENSP00000456185.1:n.223-405T>C
ENST00000564578.5:c.351T>C	ENSP00000455818.1:p.Ser117=
ENST00000566249.5:c.235T>C
ENST00000566560.5:n.547T>C
ENST00000568378.5:c.146+7780T>C	ENSP00000454512.1:n.146+7780T>C
ENST00000568682.5:c.-36T>C	ENSP00000462057.1:n.-36T>C
ENST00000570215.1:c.517T>C	ENSP00000458028.1:p.Tyr173His
NM_001130089.1:c.517T>C , LRG_366t1:c.517T>C	NP_001123561.1:p.Tyr173His
NM_005548.2:c.433T>C	NP_005539.1:p.Tyr145His
XM_017023217.1:c.-36T>C	XP_016878706.1:n.-36T>C
NM_001130089.2:c.517T>C	NP_001123561.1:p.Tyr173His
NM_001378148.1:c.-36T>C	NP_001365077.1:n.-36T>C
NM_005548.3:c.433T>C MANE Select	NP_005539.1:p.Tyr145His