Canonical Allele Identifier: CA387917999
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

gnomAD v4: 13-40807292-A-G
MyVariant Identifiers: chr13:g.41381428A>G (hg19) chr13:g.40807292A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.453-2A>G (SLC25A15) ENSP00000516711.1:n.453-2A>G
ENST00000338625.9:c.453-2A>G (SLC25A15) MANE Select ENSP00000342267.4:n.453-2A>G
ENST00000338625.8:c.453-2A>G (SLC25A15) ENSP00000342267.4:n.453-2A>G
ENST00000417731.5:c.315-2A>G (SLC25A15) ENSP00000415826.1:n.315-2A>G
ENST00000470509.1:c.*136-2A>G (SLC25A15) ENSP00000431429.1:n.*136-2A>G
ENST00000478827.1:n.940-2A>G (SLC25A15)
NM_014252.3:c.453-2A>G (SLC25A15) NP_055067.1:n.453-2A>G
NR_038258.1:n.623-6568T>C (TPTE2P5)
NR_038259.1:n.452-6568T>C (TPTE2P5)
NM_014252.4:c.453-2A>G (SLC25A15) MANE Select NP_055067.1:n.453-2A>G
Search 100 bp 5'
Search 100 bp 3'