Canonical Allele Identifier: CA340488
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI
COSMIC:
COSM176995
MyVariant.info:
GRCh38 chr13:g.40807376C>T
GRCh37 chr13:g.41381512C>T
gnomAD v2:
13:41381512 C / T
gnomAD v3:
13:40807376 C / T
gnomAD v4:
chr13-40807376-C-T
Joint Max Group AF 0.00017088 (EAS)
Genomes Max Group AF 0.0000682 (EAS)
Exomes Max Group AF 0.00015498 (EAS)
ClinVar RCV:
RCV000006360
RCV003415665
ClinVar Variation:
5994
dbSNP:
104894429
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807376C>T , CM000675.2:g.40807376C>T GRCh38
NC_000013.10:g.41381512C>T , CM000675.1:g.41381512C>T GRCh37
NC_000013.9:g.40279512C>T NCBI36
NG_012248.1:g.22966C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.535C>T (SLC25A15) ENSP00000516711.1:p.Arg179Ter
ENST00000338625.9:c.535C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Arg179Ter
ENST00000338625.8:c.535C>T (SLC25A15) ENSP00000342267.4:p.Arg179Ter
ENST00000417731.5:c.397C>T (SLC25A15) ENSP00000415826.1:p.Arg133Ter
ENST00000470509.1:c.*218C>T (SLC25A15) ENSP00000431429.1:n.*218C>T
ENST00000478827.1:n.1022C>T (SLC25A15)
NM_014252.3:c.535C>T (SLC25A15) NP_055067.1:p.Arg179Ter
NR_038258.1:n.623-6652G>A (TPTE2P5)
NR_038259.1:n.452-6652G>A (TPTE2P5)
NM_014252.4:c.535C>T (SLC25A15) MANE Select NP_055067.1:p.Arg179Ter
Search 100 bp 5'
Search 100 bp 3'