Canonical Allele Identifier: CA6959664
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.40799279G>A
GRCh37 chr13:g.41373415G>A
Revel Score:
ENST00000338625 (MANE Select) 0.295
ENST00000379523 0.295
ENST00000417731 0.295
gnomAD v2:
13:41373415 G / A
gnomAD v3:
13:40799279 G / A
gnomAD v4:
chr13-40799279-G-A
Joint Max Group AF 0.00152835 (EAS)
Genomes Max Group AF 0.00119097 (EAS)
Exomes Max Group AF 0.00147596 (EAS)
ClinVar Allele:
336563
ClinVar RCV:
RCV000367821
ClinVar Variation:
312177
dbSNP:
369201060
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799279G>A , CM000675.2:g.40799279G>A GRCh38
NC_000013.10:g.41373415G>A , CM000675.1:g.41373415G>A GRCh37
NC_000013.9:g.40271415G>A NCBI36
NG_012248.1:g.14869G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.278G>A (SLC25A15) ENSP00000516711.1:p.Arg93Gln
ENST00000338625.9:c.278G>A (SLC25A15) MANE Select ENSP00000342267.4:p.Arg93Gln
ENST00000338625.8:c.278G>A (SLC25A15) ENSP00000342267.4:p.Arg93Gln
ENST00000417731.5:c.278G>A (SLC25A15) ENSP00000415826.1:p.Arg93Gln
ENST00000470509.1:c.171+107G>A (SLC25A15) ENSP00000431429.1:n.171+107G>A
ENST00000478827.1:n.599G>A (SLC25A15)
NM_014252.3:c.278G>A (SLC25A15) NP_055067.1:p.Arg93Gln
NR_038258.1:n.2068C>T (TPTE2P5)
NR_038259.1:n.1897C>T (TPTE2P5)
NM_014252.4:c.278G>A (SLC25A15) MANE Select NP_055067.1:p.Arg93Gln
Search 100 bp 5'
Search 100 bp 3'