ClinVar

NM_001614.5(ACTG1):c.45C>T (p.Gly15=)

Genes:

LOC130061940:ATAC-STARR-seq lymphoblastoid active region 12964 [Gene]
ACTG1:actin gamma 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

• Chr17: 81512310 (on Assembly GRCh38)
• Chr17: 79479336 (on Assembly GRCh37)

Preferred name:

NM_001614.5(ACTG1):c.45C>T (p.Gly15=)

HGVS:

• NC_000017.11:g.81512310G>A
• NG_011433.1:g.5492C>T
• NM_001199954.3:c.45C>T
• NM_001614.5:c.45C>TMANE SELECT
• NP_001186883.1:p.Gly15=
• NP_001605.1:p.Gly15=
• NC_000017.10:g.79479336G>A
• NM_001614.3:c.45C>T
• NR_037688.3:n.117C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs145574149

NCBI 1000 Genomes Browser:

rs145574149

Molecular consequence:

• NR_037688.3:n.117C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001199954.3:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001614.5:c.45C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1