Canonical Allele Identifier: CA10634395
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 312193
ClinVar RCV Id: RCV000399649
dbSNP Id: rs763688411
gnomAD v2: 13-41384443-C-T
gnomAD v3: 13-40810307-C-T
gnomAD v4: 13-40810307-C-T
MyVariant Identifiers: chr13:g.41384443C>T (hg19) chr13:g.40810307C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40810307C>T , CM000675.2:g.40810307C>T GRCh38
NC_000013.10:g.41384443C>T , CM000675.1:g.41384443C>T GRCh37
NC_000013.9:g.40282443C>T NCBI36
NG_012248.1:g.25897C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.*640C>T (SLC25A15) ENSP00000516711.1:n.*640C>T
ENST00000338625.9:c.*640C>T (SLC25A15) MANE Select ENSP00000342267.4:n.*640C>T
NM_014252.3:c.*640C>T (SLC25A15) NP_055067.1:n.*640C>T
NR_038258.1:n.623-9583G>A (TPTE2P5)
NR_038259.1:n.452-9583G>A (TPTE2P5)
NM_014252.4:c.*640C>T (SLC25A15) MANE Select NP_055067.1:n.*640C>T
Search 100 bp 5'
Search 100 bp 3'