Canonical Allele Identifier: CA6959709
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.40805184G>A
GRCh37 chr13:g.41379320G>A
gnomAD v2:
13:41379320 G / A
gnomAD v3:
13:40805184 G / A
gnomAD v4:
chr13-40805184-G-A
Joint Max Group AF 0.00010393 (EAS)
Genomes Max Group AF 0.00006828 (EAS)
Exomes Max Group AF 0.00008198 (EAS)
ClinVar Allele:
957106
ClinVar RCV:
RCV001243994
ClinVar Variation:
968780
dbSNP:
543205273
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40805184G>A , CM000675.2:g.40805184G>A GRCh38
NC_000013.10:g.41379320G>A , CM000675.1:g.41379320G>A GRCh37
NC_000013.9:g.40277320G>A NCBI36
NG_012248.1:g.20774G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.381G>A (SLC25A15) ENSP00000516711.1:p.Thr127=
ENST00000338625.9:c.381G>A (SLC25A15) MANE Select ENSP00000342267.4:p.Thr127=
ENST00000338625.8:c.381G>A (SLC25A15) ENSP00000342267.4:p.Thr127=
ENST00000417731.5:c.315-2110G>A (SLC25A15) ENSP00000415826.1:n.315-2110G>A
ENST00000470509.1:c.*64G>A (SLC25A15) ENSP00000431429.1:n.*64G>A
ENST00000478827.1:n.868G>A (SLC25A15)
NM_014252.3:c.381G>A (SLC25A15) NP_055067.1:p.Thr127=
NR_038258.1:n.623-4460C>T (TPTE2P5)
NR_038259.1:n.452-4460C>T (TPTE2P5)
NM_014252.4:c.381G>A (SLC25A15) MANE Select NP_055067.1:p.Thr127=
Search 100 bp 5'
Search 100 bp 3'