Canonical Allele Identifier: CA6959766
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1063397
ClinVar RCV Id: RCV001373230
dbSNP Id: rs746179010
ExAC: 13:41381558 G / A
gnomAD v2: 13-41381558-G-A
gnomAD v4: 13-40807422-G-A
MyVariant Identifiers: chr13:g.41381558G>A (hg19) chr13:g.40807422G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807422G>A , CM000675.2:g.40807422G>A GRCh38
NC_000013.10:g.41381558G>A , CM000675.1:g.41381558G>A GRCh37
NC_000013.9:g.40279558G>A NCBI36
NG_012248.1:g.23012G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.581G>A (SLC25A15) ENSP00000516711.1:p.Ser194Asn
ENST00000338625.9:c.581G>A (SLC25A15) MANE Select ENSP00000342267.4:p.Ser194Asn
ENST00000338625.8:c.581G>A (SLC25A15) ENSP00000342267.4:p.Ser194Asn
ENST00000470509.1:c.*264G>A (SLC25A15) ENSP00000431429.1:n.*264G>A
ENST00000478827.1:n.1068G>A (SLC25A15)
NM_014252.3:c.581G>A (SLC25A15) NP_055067.1:p.Ser194Asn
NR_038258.1:n.623-6698C>T (TPTE2P5)
NR_038259.1:n.452-6698C>T (TPTE2P5)
NM_014252.4:c.581G>A (SLC25A15) MANE Select NP_055067.1:p.Ser194Asn
Search 100 bp 5'
Search 100 bp 3'