Canonical Allele Identifier: CA340494
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.40809576C>T
GRCh37 chr13:g.41383712C>T
Revel Score:
ENST00000338625 (MANE Select) 0.880
ENST00000443985 0.880
gnomAD v2:
13:41383712 C / T
gnomAD v3:
13:40809576 C / T
gnomAD v4:
chr13-40809576-C-T
Joint Max Group AF 0.00031308 (EAS)
Genomes Max Group AF 0.00050443 (EAS)
Exomes Max Group AF 0.00023281 (EAS)
ClinVar Allele:
21038
ClinVar RCV:
RCV000006365
ClinVar Variation:
5999
dbSNP:
121908535
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40809576C>T , CM000675.2:g.40809576C>T GRCh38
NC_000013.10:g.41383712C>T , CM000675.1:g.41383712C>T GRCh37
NC_000013.9:g.40281712C>T NCBI36
NG_012248.1:g.25166C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.815C>T (SLC25A15) ENSP00000516711.1:p.Thr272Ile
ENST00000338625.9:c.815C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Thr272Ile
ENST00000338625.8:c.815C>T (SLC25A15) ENSP00000342267.4:p.Thr272Ile
NM_014252.3:c.815C>T (SLC25A15) NP_055067.1:p.Thr272Ile
NR_038258.1:n.623-8852G>A (TPTE2P5)
NR_038259.1:n.452-8852G>A (TPTE2P5)
NM_014252.4:c.815C>T (SLC25A15) MANE Select NP_055067.1:p.Thr272Ile
Search 100 bp 5'
Search 100 bp 3'