Canonical Allele Identifier: CA343046
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 38403
ClinVar RCV Id: RCV000031955
dbSNP Id: rs202247807

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40809584C>T , CM000675.2:g.40809584C>T GRCh38
NC_000013.10:g.41383720C>T , CM000675.1:g.41383720C>T GRCh37
NC_000013.9:g.40281720C>T NCBI36
NG_012248.1:g.25174C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.823C>T (SLC25A15) ENSP00000516711.1:p.Arg275Ter
ENST00000338625.9:c.823C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Arg275Ter
ENST00000338625.8:c.823C>T (SLC25A15) ENSP00000342267.4:p.Arg275Ter
NM_014252.3:c.823C>T (SLC25A15) NP_055067.1:p.Arg275Ter
NR_038258.1:n.623-8860G>A (TPTE2P5)
NR_038259.1:n.452-8860G>A (TPTE2P5)
NM_014252.4:c.823C>T (SLC25A15) MANE Select NP_055067.1:p.Arg275Ter