Canonical Allele Identifier: CA248374304
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1921367
ClinVar RCV Id: RCV002608826
dbSNP Id: rs769512206
gnomAD v2: 13-41373328-A-T
gnomAD v3: 13-40799192-A-T
gnomAD v4: 13-40799192-A-T
MyVariant Identifiers: chr13:g.41373328A>T (hg19) chr13:g.40799192A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40799192A>T , CM000675.2:g.40799192A>T GRCh38
NC_000013.10:g.41373328A>T , CM000675.1:g.41373328A>T GRCh37
NC_000013.9:g.40271328A>T NCBI36
NG_012248.1:g.14782A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000707033.1:c.191A>T (SLC25A15) ENSP00000516711.1:p.Tyr64Phe
ENST00000338625.9:c.191A>T (SLC25A15) MANE Select ENSP00000342267.4:p.Tyr64Phe
ENST00000338625.8:c.191A>T (SLC25A15) ENSP00000342267.4:p.Tyr64Phe
ENST00000417731.5:c.191A>T (SLC25A15) ENSP00000415826.1:p.Tyr64Phe
ENST00000470509.1:c.171+20A>T (SLC25A15) ENSP00000431429.1:n.171+20A>T
ENST00000478827.1:n.512A>T (SLC25A15)
NM_014252.3:c.191A>T (SLC25A15) NP_055067.1:p.Tyr64Phe
NR_038258.1:n.2155T>A (TPTE2P5)
NR_038259.1:n.1984T>A (TPTE2P5)
NM_014252.4:c.191A>T (SLC25A15) MANE Select NP_055067.1:p.Tyr64Phe
Search 100 bp 5'
Search 100 bp 3'