Canonical Allele Identifier: CA6959712

Gene: SLC25A15 TPTE2P5

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40805191G>A , CM000675.2:g.40805191G>A	GRCh38
NC_000013.10:g.41379327G>A , CM000675.1:g.41379327G>A	GRCh37
NC_000013.9:g.40277327G>A	NCBI36
NG_012248.1:g.20781G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014252.4:c.388G>A (SLC25A15) MANE Select	NP_055067.1:p.Val130Met
ENST00000338625.9:c.388G>A (SLC25A15) MANE Select	ENSP00000342267.4:p.Val130Met
NM_014252.3:c.388G>A (SLC25A15)	NP_055067.1:p.Val130Met
NR_038258.1:n.623-4467C>T (TPTE2P5)
NR_038259.1:n.452-4467C>T (TPTE2P5)
ENST00000338625.8:c.388G>A (SLC25A15)	ENSP00000342267.4:p.Val130Met
ENST00000417731.5:c.315-2103G>A (SLC25A15)	ENSP00000415826.1:n.315-2103G>A
ENST00000470509.1:c.*71G>A (SLC25A15)	ENSP00000431429.1:n.*71G>A
ENST00000478827.1:n.875G>A (SLC25A15)
ENST00000707033.1:c.388G>A (SLC25A15)	ENSP00000516711.1:p.Val130Met