Canonical Allele Identifier: CA387918468
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.41381555T>G (hg19) chr13:g.40807419T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807419T>G , CM000675.2:g.40807419T>G GRCh38
NC_000013.10:g.41381555T>G , CM000675.1:g.41381555T>G GRCh37
NC_000013.9:g.40279555T>G NCBI36
NG_012248.1:g.23009T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.578T>G (SLC25A15) ENSP00000516711.1:p.Leu193Arg
ENST00000338625.9:c.578T>G (SLC25A15) MANE Select ENSP00000342267.4:p.Leu193Arg
ENST00000338625.8:c.578T>G (SLC25A15) ENSP00000342267.4:p.Leu193Arg
ENST00000470509.1:c.*261T>G (SLC25A15) ENSP00000431429.1:n.*261T>G
ENST00000478827.1:n.1065T>G (SLC25A15)
NM_014252.3:c.578T>G (SLC25A15) NP_055067.1:p.Leu193Arg
NR_038258.1:n.623-6695A>C (TPTE2P5)
NR_038259.1:n.452-6695A>C (TPTE2P5)
NM_014252.4:c.578T>G (SLC25A15) MANE Select NP_055067.1:p.Leu193Arg
Search 100 bp 5'
Search 100 bp 3'