Canonical Allele Identifier: CA6959631

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs144656633
• ExAC: 13:41373276 C / T
• gnomAD v2: 13-41373276-C-T
• gnomAD v3: 13-40799140-C-T
• gnomAD v4: 13-40799140-C-T
• MyVariant Identifiers: chr13:g.41373276C>T (hg19) ; chr13:g.40799140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40799140C>T , CM000675.2:g.40799140C>T	GRCh38
NC_000013.10:g.41373276C>T , CM000675.1:g.41373276C>T	GRCh37
NC_000013.9:g.40271276C>T	NCBI36
NG_012248.1:g.14730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.139C>T (SLC25A15)	ENSP00000516711.1:p.Leu47Phe
ENST00000338625.9:c.139C>T (SLC25A15) MANE Select	ENSP00000342267.4:p.Leu47Phe
ENST00000338625.8:c.139C>T (SLC25A15)	ENSP00000342267.4:p.Leu47Phe
ENST00000417731.5:c.139C>T (SLC25A15)	ENSP00000415826.1:p.Leu47Phe
ENST00000470509.1:c.139C>T (SLC25A15)	ENSP00000431429.1:p.Leu47Phe
ENST00000478827.1:n.460C>T (SLC25A15)
NM_014252.3:c.139C>T (SLC25A15)	NP_055067.1:p.Leu47Phe
NR_038258.1:n.2207G>A (TPTE2P5)
NR_038259.1:n.2036G>A (TPTE2P5)
NM_014252.4:c.139C>T (SLC25A15) MANE Select	NP_055067.1:p.Leu47Phe