Canonical Allele Identifier: CA483726542
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1086805
ClinVar RCV Id: RCV001404701
dbSNP Id: rs560300254
gnomAD v2: 13-41373275-C-A
gnomAD v4: 13-40799139-C-A
MyVariant Identifiers: chr13:g.41373275C>A (hg19) chr13:g.40799139C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799139C>A , CM000675.2:g.40799139C>A GRCh38
NC_000013.10:g.41373275C>A , CM000675.1:g.41373275C>A GRCh37
NC_000013.9:g.40271275C>A NCBI36
NG_012248.1:g.14729C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.138C>A (SLC25A15) ENSP00000516711.1:p.Gly46=
ENST00000338625.9:c.138C>A (SLC25A15) MANE Select ENSP00000342267.4:p.Gly46=
ENST00000338625.8:c.138C>A (SLC25A15) ENSP00000342267.4:p.Gly46=
ENST00000417731.5:c.138C>A (SLC25A15) ENSP00000415826.1:p.Gly46=
ENST00000470509.1:c.138C>A (SLC25A15) ENSP00000431429.1:p.Gly46=
ENST00000478827.1:n.459C>A (SLC25A15)
NM_014252.3:c.138C>A (SLC25A15) NP_055067.1:p.Gly46=
NR_038258.1:n.2208G>T (TPTE2P5)
NR_038259.1:n.2037G>T (TPTE2P5)
NM_014252.4:c.138C>A (SLC25A15) MANE Select NP_055067.1:p.Gly46=
Search 100 bp 5'
Search 100 bp 3'