Canonical Allele Identifier: CA483461313
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.41381554C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807418C>T , CM000675.2:g.40807418C>T GRCh38
NC_000013.10:g.41381554C>T , CM000675.1:g.41381554C>T GRCh37
NC_000013.9:g.40279554C>T NCBI36
NG_012248.1:g.23008C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.577C>T (SLC25A15) ENSP00000516711.1:p.Leu193=
ENST00000338625.9:c.577C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Leu193=
ENST00000338625.8:c.577C>T (SLC25A15) ENSP00000342267.4:p.Leu193=
ENST00000470509.1:c.*260C>T (SLC25A15) ENSP00000431429.1:n.*260C>T
ENST00000478827.1:n.1064C>T (SLC25A15)
NM_014252.3:c.577C>T (SLC25A15) NP_055067.1:p.Leu193=
NR_038258.1:n.623-6694G>A (TPTE2P5)
NR_038259.1:n.452-6694G>A (TPTE2P5)
NM_014252.4:c.577C>T (SLC25A15) MANE Select NP_055067.1:p.Leu193=