Canonical Allele Identifier: CA387918290
Community Standard Title: NM_014252.4(SLC25A15):c.530T>A (p.Leu177Ter)
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807371T>A , CM000675.2:g.40807371T>A GRCh38
NC_000013.10:g.41381507T>A , CM000675.1:g.41381507T>A GRCh37
NC_000013.9:g.40279507T>A NCBI36
NG_012248.1:g.22961T>A

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.530T>A (SLC25A15) MANE Select NP_055067.1:p.Leu177Ter
ENST00000338625.9:c.530T>A (SLC25A15) MANE Select ENSP00000342267.4:p.Leu177Ter
NM_014252.3:c.530T>A (SLC25A15) NP_055067.1:p.Leu177Ter
NR_038258.1:n.623-6647A>T (TPTE2P5)
NR_038259.1:n.452-6647A>T (TPTE2P5)
ENST00000338625.8:c.530T>A (SLC25A15) ENSP00000342267.4:p.Leu177Ter
ENST00000417731.5:c.392T>A (SLC25A15) ENSP00000415826.1:p.Leu131Ter
ENST00000470509.1:c.*213T>A (SLC25A15) ENSP00000431429.1:n.*213T>A
ENST00000478827.1:n.1017T>A (SLC25A15)
ENST00000707033.1:c.530T>A (SLC25A15) ENSP00000516711.1:p.Leu177Ter