Canonical Allele Identifier: CA483461350
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.41381560C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807424C>A , CM000675.2:g.40807424C>A GRCh38
NC_000013.10:g.41381560C>A , CM000675.1:g.41381560C>A GRCh37
NC_000013.9:g.40279560C>A NCBI36
NG_012248.1:g.23014C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.583C>A (SLC25A15) ENSP00000516711.1:p.Arg195=
ENST00000338625.9:c.583C>A (SLC25A15) MANE Select ENSP00000342267.4:p.Arg195=
ENST00000338625.8:c.583C>A (SLC25A15) ENSP00000342267.4:p.Arg195=
ENST00000470509.1:c.*266C>A (SLC25A15) ENSP00000431429.1:n.*266C>A
ENST00000478827.1:n.1070C>A (SLC25A15)
NM_014252.3:c.583C>A (SLC25A15) NP_055067.1:p.Arg195=
NR_038258.1:n.623-6700G>T (TPTE2P5)
NR_038259.1:n.452-6700G>T (TPTE2P5)
NM_014252.4:c.583C>A (SLC25A15) MANE Select NP_055067.1:p.Arg195=