ClinVar

NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)

Genes:

LOC129998833:ATAC-STARR-seq lymphoblastoid silent region 18384 [Gene]
SLC25A13:solute carrier family 25 member 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q21.3

Genomic location:

• Chr7: 96321951 (on Assembly GRCh38)
• Chr7: 95951263 (on Assembly GRCh37)

Preferred name:

NM_014251.3(SLC25A13):c.6G>T (p.Ala2=)

HGVS:

• NC_000007.14:g.96321951C>A
• NG_012247.2:g.5197G>T
• NM_001160210.2:c.6G>T
• NM_014251.3:c.6G>TMANE SELECT
• NP_001153682.1:p.Ala2=
• NP_055066.1:p.Ala2=
• NC_000007.13:g.95951263C>A
• NM_014251.2:c.6G>T
• NR_027662.2:n.148G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs774562949

NCBI 1000 Genomes Browser:

rs774562949

Molecular consequence:

• NR_027662.2:n.148G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001160210.2:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_014251.3:c.6G>T - synonymous variant - [Sequence Ontology: SO:0001819]