ClinVar

NM_003055.3(SLC18A3):c.1113G>T (p.Ser371=)

Genes:

CHAT:choline O-acetyltransferase [Gene - OMIM - HGNC]
SLC18A3:solute carrier family 18 member A3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q11.23

Genomic location:

• Chr10: 49611853 (on Assembly GRCh38)
• Chr10: 50819899 (on Assembly GRCh37)

Preferred name:

NM_003055.3(SLC18A3):c.1113G>T (p.Ser371=)

HGVS:

• NC_000010.11:g.49611853G>T
• NG_011797.1:g.7759G>T
• NG_011797.2:g.7760G>T
• NG_053144.1:g.6553G>T
• NG_119460.1:g.672G>T
• NM_003055.3:c.1113G>TMANE SELECT
• NM_020984.4:c.-69+2654G>T
• NP_003046.2:p.Ser371=
• NC_000010.10:g.50819899G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1360779629

NCBI 1000 Genomes Browser:

rs1360779629

Molecular consequence:

• NM_020984.4:c.-69+2654G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003055.3:c.1113G>T - synonymous variant - [Sequence Ontology: SO:0001819]