Canonical Allele Identifier: CA387918393

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs1353856214
• gnomAD v2: 13-41381536-T-C
• gnomAD v4: 13-40807400-T-C
• MyVariant Identifiers: chr13:g.41381536T>C (hg19) ; chr13:g.40807400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807400T>C , CM000675.2:g.40807400T>C	GRCh38
NC_000013.10:g.41381536T>C , CM000675.1:g.41381536T>C	GRCh37
NC_000013.9:g.40279536T>C	NCBI36
NG_012248.1:g.22990T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.559T>C (SLC25A15)	ENSP00000516711.1:p.Phe187Leu
ENST00000338625.9:c.559T>C (SLC25A15) MANE Select	ENSP00000342267.4:p.Phe187Leu
ENST00000338625.8:c.559T>C (SLC25A15)	ENSP00000342267.4:p.Phe187Leu
ENST00000470509.1:c.*242T>C (SLC25A15)	ENSP00000431429.1:n.*242T>C
ENST00000478827.1:n.1046T>C (SLC25A15)
NM_014252.3:c.559T>C (SLC25A15)	NP_055067.1:p.Phe187Leu
NR_038258.1:n.623-6676A>G (TPTE2P5)
NR_038259.1:n.452-6676A>G (TPTE2P5)
NM_014252.4:c.559T>C (SLC25A15) MANE Select	NP_055067.1:p.Phe187Leu