Canonical Allele Identifier: CA387918261
Community Standard Title: NM_014252.4(SLC25A15):c.521C>A (p.Ser174Ter)
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807362C>A , CM000675.2:g.40807362C>A GRCh38
NC_000013.10:g.41381498C>A , CM000675.1:g.41381498C>A GRCh37
NC_000013.9:g.40279498C>A NCBI36
NG_012248.1:g.22952C>A

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.521C>A (SLC25A15) MANE Select NP_055067.1:p.Ser174Ter
ENST00000338625.9:c.521C>A (SLC25A15) MANE Select ENSP00000342267.4:p.Ser174Ter
NM_014252.3:c.521C>A (SLC25A15) NP_055067.1:p.Ser174Ter
NR_038258.1:n.623-6638G>T (TPTE2P5)
NR_038259.1:n.452-6638G>T (TPTE2P5)
ENST00000338625.8:c.521C>A (SLC25A15) ENSP00000342267.4:p.Ser174Ter
ENST00000417731.5:c.383C>A (SLC25A15) ENSP00000415826.1:p.Ser128Ter
ENST00000470509.1:c.*204C>A (SLC25A15) ENSP00000431429.1:n.*204C>A
ENST00000478827.1:n.1008C>A (SLC25A15)
ENST00000707033.1:c.521C>A (SLC25A15) ENSP00000516711.1:p.Ser174Ter