Canonical Allele Identifier: CA340493
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 5998
ClinVar RCV Id: RCV000006364
dbSNP Id: rs121908534
MyVariant Identifiers: chr13:g.41373349T>A (hg19) chr13:g.40799213T>A (hg38)
PubMed: PMID:19242930 PMID:22649802
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799213T>A , CM000675.2:g.40799213T>A GRCh38
NC_000013.10:g.41373349T>A , CM000675.1:g.41373349T>A GRCh37
NC_000013.9:g.40271349T>A NCBI36
NG_012248.1:g.14803T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.212T>A (SLC25A15) ENSP00000516711.1:p.Leu71Gln
ENST00000338625.9:c.212T>A (SLC25A15) MANE Select ENSP00000342267.4:p.Leu71Gln
ENST00000338625.8:c.212T>A (SLC25A15) ENSP00000342267.4:p.Leu71Gln
ENST00000417731.5:c.212T>A (SLC25A15) ENSP00000415826.1:p.Leu71Gln
ENST00000470509.1:c.171+41T>A (SLC25A15) ENSP00000431429.1:n.171+41T>A
ENST00000478827.1:n.533T>A (SLC25A15)
NM_014252.3:c.212T>A (SLC25A15) NP_055067.1:p.Leu71Gln
NR_038258.1:n.2134A>T (TPTE2P5)
NR_038259.1:n.1963A>T (TPTE2P5)
NM_014252.4:c.212T>A (SLC25A15) MANE Select NP_055067.1:p.Leu71Gln
Search 100 bp 5'
Search 100 bp 3'