Canonical Allele Identifier: CA483461323
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1126194
ClinVar RCV Id: RCV001458127
dbSNP Id: rs2138056841
MyVariant Identifiers: chr13:g.41381556G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.40807420G>C , CM000675.2:g.40807420G>C GRCh38
NC_000013.10:g.41381556G>C , CM000675.1:g.41381556G>C GRCh37
NC_000013.9:g.40279556G>C NCBI36
NG_012248.1:g.23010G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000707033.1:c.579G>C (SLC25A15) ENSP00000516711.1:p.Leu193=
ENST00000338625.9:c.579G>C (SLC25A15) MANE Select ENSP00000342267.4:p.Leu193=
ENST00000338625.8:c.579G>C (SLC25A15) ENSP00000342267.4:p.Leu193=
ENST00000470509.1:c.*262G>C (SLC25A15) ENSP00000431429.1:n.*262G>C
ENST00000478827.1:n.1066G>C (SLC25A15)
NM_014252.3:c.579G>C (SLC25A15) NP_055067.1:p.Leu193=
NR_038258.1:n.623-6696C>G (TPTE2P5)
NR_038259.1:n.452-6696C>G (TPTE2P5)
NM_014252.4:c.579G>C (SLC25A15) MANE Select NP_055067.1:p.Leu193=
Search 100 bp 5'
Search 100 bp 3'