Canonical Allele Identifier: CA2573149652
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1566546
ClinVar RCV Id: RCV002207467
dbSNP Id: rs2138056608

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807287C>T , CM000675.2:g.40807287C>T GRCh38
NC_000013.10:g.41381423C>T , CM000675.1:g.41381423C>T GRCh37
NC_000013.9:g.40279423C>T NCBI36
NG_012248.1:g.22877C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.453-7C>T (SLC25A15) ENSP00000516711.1:n.453-7C>T
ENST00000338625.9:c.453-7C>T (SLC25A15) MANE Select ENSP00000342267.4:n.453-7C>T
ENST00000338625.8:c.453-7C>T (SLC25A15) ENSP00000342267.4:n.453-7C>T
ENST00000417731.5:c.315-7C>T (SLC25A15) ENSP00000415826.1:n.315-7C>T
ENST00000470509.1:c.*136-7C>T (SLC25A15) ENSP00000431429.1:n.*136-7C>T
ENST00000478827.1:n.940-7C>T (SLC25A15)
NM_014252.3:c.453-7C>T (SLC25A15) NP_055067.1:n.453-7C>T
NR_038258.1:n.623-6563G>A (TPTE2P5)
NR_038259.1:n.452-6563G>A (TPTE2P5)
NM_014252.4:c.453-7C>T (SLC25A15) MANE Select NP_055067.1:n.453-7C>T