Canonical Allele Identifier: CA340493

Gene: SLC25A15 TPTE2P5

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

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