Canonical Allele Identifier: CA387917997
Community Standard Title: NM_014252.4(SLC25A15):c.453-2A>C
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807292A>C , CM000675.2:g.40807292A>C GRCh38
NC_000013.10:g.41381428A>C , CM000675.1:g.41381428A>C GRCh37
NC_000013.9:g.40279428A>C NCBI36
NG_012248.1:g.22882A>C

Transcript Alleles

HGVS Amino-acid Change
NM_014252.4:c.453-2A>C (SLC25A15) MANE Select NP_055067.1:n.453-2A>C
ENST00000338625.9:c.453-2A>C (SLC25A15) MANE Select ENSP00000342267.4:n.453-2A>C
NM_014252.3:c.453-2A>C (SLC25A15) NP_055067.1:n.453-2A>C
NR_038258.1:n.623-6568T>G (TPTE2P5)
NR_038259.1:n.452-6568T>G (TPTE2P5)
ENST00000338625.8:c.453-2A>C (SLC25A15) ENSP00000342267.4:n.453-2A>C
ENST00000417731.5:c.315-2A>C (SLC25A15) ENSP00000415826.1:n.315-2A>C
ENST00000470509.1:c.*136-2A>C (SLC25A15) ENSP00000431429.1:n.*136-2A>C
ENST00000478827.1:n.940-2A>C (SLC25A15)
ENST00000707033.1:c.453-2A>C (SLC25A15) ENSP00000516711.1:n.453-2A>C