ClinVar

NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)

Gene:

HARS1:histidyl-tRNA synthetase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 140675111 (on Assembly GRCh38)
• Chr5: 140054696 (on Assembly GRCh37)

Preferred name:

NM_002109.6(HARS1):c.1217C>A (p.Thr406Asn)

HGVS:

• NC_000005.10:g.140675111G>T
• NG_032158.1:g.21276C>A
• NM_001258040.3:c.1097C>A
• NM_001258041.3:c.1157C>A
• NM_001258042.3:c.1037C>A
• NM_001289092.2:c.995C>A
• NM_001289093.2:c.875C>A
• NM_001289094.2:c.1130C>A
• NM_002109.6:c.1217C>AMANE SELECT
• NP_001244969.1:p.Thr366Asn
• NP_001244970.1:p.Thr386Asn
• NP_001244971.1:p.Thr346Asn
• NP_001276021.1:p.Thr332Asn
• NP_001276022.1:p.Thr292Asn
• NP_001276023.1:p.Thr377Asn
• NP_002100.2:p.Thr406Asn
• LRG_1374t1:c.1217C>A
• LRG_1374:g.21276C>A
• LRG_1374p1:p.Thr406Asn
• NC_000005.9:g.140054696G>T
• NM_002109.3:c.1217C>A
• NM_002109.5:c.1217C>A
• p.Thr406Asn

This HGVS expression did not pass validation

Protein change:

T292N

Links:

dbSNP: rs369070016

NCBI 1000 Genomes Browser:

rs369070016

Molecular consequence:

• NM_001258040.3:c.1097C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258041.3:c.1157C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001258042.3:c.1037C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289092.2:c.995C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289093.2:c.875C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001289094.2:c.1130C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002109.6:c.1217C>A - missense variant - [Sequence Ontology: SO:0001583]