ClinVar

NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)

Gene:

SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q23.3

Genomic location:

• Chr11: 119026078 (on Assembly GRCh38)
• Chr11: 118896788 (on Assembly GRCh37)

Preferred name:

NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)

HGVS:

• NC_000011.10:g.119026078C>T
• NG_013331.1:g.9828G>A
• NM_001164277.2:c.873G>AMANE SELECT
• NM_001164278.2:c.873G>A
• NM_001164279.2:c.654G>A
• NM_001164280.2:c.873G>A
• NM_001467.6:c.873G>A
• NP_001157749.1:p.Ala291=
• NP_001157749.1:p.Ala291=
• NP_001157750.1:p.Ala291=
• NP_001157751.1:p.Ala218=
• NP_001157752.1:p.Ala291=
• NP_001458.1:p.Ala291=
• LRG_187t1:c.873G>A
• LRG_187:g.9828G>A
• LRG_187p1:p.Ala291=
• NC_000011.9:g.118896788C>T
• NM_001164277.1:c.873G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs974857648

NCBI 1000 Genomes Browser:

rs974857648

Molecular consequence:

• NM_001164277.2:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164278.2:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164279.2:c.654G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001164280.2:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001467.6:c.873G>A - synonymous variant - [Sequence Ontology: SO:0001819]