Canonical Allele Identifier: CA6959646
Community Standard Title: NM_014252.4(SLC25A15):c.216C>T (p.Ile72=)
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799217C>T , CM000675.2:g.40799217C>T GRCh38
NC_000013.10:g.41373353C>T , CM000675.1:g.41373353C>T GRCh37
NC_000013.9:g.40271353C>T NCBI36
NG_012248.1:g.14807C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.216C>T (SLC25A15) MANE Select NP_055067.1:p.Ile72=
ENST00000338625.9:c.216C>T (SLC25A15) MANE Select ENSP00000342267.4:p.Ile72=
NM_014252.3:c.216C>T (SLC25A15) NP_055067.1:p.Ile72=
NR_038258.1:n.2130G>A (TPTE2P5)
NR_038259.1:n.1959G>A (TPTE2P5)
ENST00000338625.8:c.216C>T (SLC25A15) ENSP00000342267.4:p.Ile72=
ENST00000417731.5:c.216C>T (SLC25A15) ENSP00000415826.1:p.Ile72=
ENST00000470509.1:c.171+45C>T (SLC25A15) ENSP00000431429.1:n.171+45C>T
ENST00000478827.1:n.537C>T (SLC25A15)
ENST00000707033.1:c.216C>T (SLC25A15) ENSP00000516711.1:p.Ile72=