Canonical Allele Identifier: CA312984

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 5993
• ClinVar RCV Id: RCV000006359 ; RCV000514789
• dbSNP Id: rs104894424
• ExAC: 13:41381515 G / A
• gnomAD v2: 13-41381515-G-A
• gnomAD v3: 13-40807379-G-A
• gnomAD v4: 13-40807379-G-A
• MyVariant Identifiers: chr13:g.41381515G>A (hg19) ; chr13:g.40807379G>A (hg38)
• PubMed: PMID:10369256 ; PMID:22649802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807379G>A , CM000675.2:g.40807379G>A	GRCh38
NC_000013.10:g.41381515G>A , CM000675.1:g.41381515G>A	GRCh37
NC_000013.9:g.40279515G>A	NCBI36
NG_012248.1:g.22969G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.538G>A (SLC25A15)	ENSP00000516711.1:p.Glu180Lys
ENST00000338625.9:c.538G>A (SLC25A15) MANE Select	ENSP00000342267.4:p.Glu180Lys
ENST00000338625.8:c.538G>A (SLC25A15)	ENSP00000342267.4:p.Glu180Lys
ENST00000470509.1:c.*221G>A (SLC25A15)	ENSP00000431429.1:n.*221G>A
ENST00000478827.1:n.1025G>A (SLC25A15)
NM_014252.3:c.538G>A (SLC25A15)	NP_055067.1:p.Glu180Lys
NR_038258.1:n.623-6655C>T (TPTE2P5)
NR_038259.1:n.452-6655C>T (TPTE2P5)
NM_014252.4:c.538G>A (SLC25A15) MANE Select	NP_055067.1:p.Glu180Lys