Canonical Allele Identifier: CA387919179
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.40808575A>C
GRCh37 chr13:g.41382711A>C
Revel Score:
ENST00000338625 (MANE Select) 0.114
ENST00000443985 0.114
gnomAD v4:
chr13-40808575-A-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV002204142
ClinVar Variation:
1673530
dbSNP:
17849654
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40808575A>C , CM000675.2:g.40808575A>C GRCh38
NC_000013.10:g.41382711A>C , CM000675.1:g.41382711A>C GRCh37
NC_000013.9:g.40280711A>C NCBI36
NG_012248.1:g.24165A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.760A>C (SLC25A15) ENSP00000516711.1:p.Ile254Leu
ENST00000338625.9:c.760A>C (SLC25A15) MANE Select ENSP00000342267.4:p.Ile254Leu
ENST00000338625.8:c.760A>C (SLC25A15) ENSP00000342267.4:p.Ile254Leu
NM_014252.3:c.760A>C (SLC25A15) NP_055067.1:p.Ile254Leu
NR_038258.1:n.623-7851T>G (TPTE2P5)
NR_038259.1:n.452-7851T>G (TPTE2P5)
NM_014252.4:c.760A>C (SLC25A15) MANE Select NP_055067.1:p.Ile254Leu
Search 100 bp 5'
Search 100 bp 3'