Canonical Allele Identifier: CA343048
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 38404
ClinVar RCV Id: RCV000031956
dbSNP Id: rs202247809

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40809608C>T , CM000675.2:g.40809608C>T GRCh38
NC_000013.10:g.41383744C>T , CM000675.1:g.41383744C>T GRCh37
NC_000013.9:g.40281744C>T NCBI36
NG_012248.1:g.25198C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.847C>T (SLC25A15) ENSP00000516711.1:p.Leu283Phe
ENST00000338625.9:c.847C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Leu283Phe
ENST00000338625.8:c.847C>T (SLC25A15) ENSP00000342267.4:p.Leu283Phe
NM_014252.3:c.847C>T (SLC25A15) NP_055067.1:p.Leu283Phe
NR_038258.1:n.623-8884G>A (TPTE2P5)
NR_038259.1:n.452-8884G>A (TPTE2P5)
NM_014252.4:c.847C>T (SLC25A15) MANE Select NP_055067.1:p.Leu283Phe