Canonical Allele Identifier: CA6959716
Community Standard Title: NM_014252.4(SLC25A15):c.403C>T (p.Gln135Ter)
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40805206C>T , CM000675.2:g.40805206C>T GRCh38
NC_000013.10:g.41379342C>T , CM000675.1:g.41379342C>T GRCh37
NC_000013.9:g.40277342C>T NCBI36
NG_012248.1:g.20796C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.403C>T (SLC25A15) MANE Select NP_055067.1:p.Gln135Ter
ENST00000338625.9:c.403C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Gln135Ter
NM_014252.3:c.403C>T (SLC25A15) NP_055067.1:p.Gln135Ter
NR_038258.1:n.623-4482G>A (TPTE2P5)
NR_038259.1:n.452-4482G>A (TPTE2P5)
ENST00000338625.8:c.403C>T (SLC25A15) ENSP00000342267.4:p.Gln135Ter
ENST00000417731.5:c.315-2088C>T (SLC25A15) ENSP00000415826.1:n.315-2088C>T
ENST00000470509.1:c.*86C>T (SLC25A15) ENSP00000431429.1:n.*86C>T
ENST00000478827.1:n.890C>T (SLC25A15)
ENST00000707033.1:c.403C>T (SLC25A15) ENSP00000516711.1:p.Gln135Ter