Canonical Allele Identifier: CA483461325
Gene: SLC25A15 HGNC NCBI
TPTE2P5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.41381556G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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