Canonical Allele Identifier: CA248374377
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2902089
ClinVar RCV Id: RCV003615544
dbSNP Id: rs1019639706

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799208A>G , CM000675.2:g.40799208A>G GRCh38
NC_000013.10:g.41373344A>G , CM000675.1:g.41373344A>G GRCh37
NC_000013.9:g.40271344A>G NCBI36
NG_012248.1:g.14798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.207A>G (SLC25A15) ENSP00000516711.1:p.Pro69=
ENST00000338625.9:c.207A>G (SLC25A15) MANE Select ENSP00000342267.4:p.Pro69=
ENST00000338625.8:c.207A>G (SLC25A15) ENSP00000342267.4:p.Pro69=
ENST00000417731.5:c.207A>G (SLC25A15) ENSP00000415826.1:p.Pro69=
ENST00000470509.1:c.171+36A>G (SLC25A15) ENSP00000431429.1:n.171+36A>G
ENST00000478827.1:n.528A>G (SLC25A15)
NM_014252.3:c.207A>G (SLC25A15) NP_055067.1:p.Pro69=
NR_038258.1:n.2139T>C (TPTE2P5)
NR_038259.1:n.1968T>C (TPTE2P5)
NM_014252.4:c.207A>G (SLC25A15) MANE Select NP_055067.1:p.Pro69=