Canonical Allele Identifier: CA248380287

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs911800976
• gnomAD v4: 13-40807297-A-G
• MyVariant Identifiers: chr13:g.41381433A>G (hg19) ; chr13:g.40807297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807297A>G , CM000675.2:g.40807297A>G	GRCh38
NC_000013.10:g.41381433A>G , CM000675.1:g.41381433A>G	GRCh37
NC_000013.9:g.40279433A>G	NCBI36
NG_012248.1:g.22887A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.456A>G (SLC25A15)	ENSP00000516711.1:p.Thr152=
ENST00000338625.9:c.456A>G (SLC25A15) MANE Select	ENSP00000342267.4:p.Thr152=
ENST00000338625.8:c.456A>G (SLC25A15)	ENSP00000342267.4:p.Thr152=
ENST00000417731.5:c.318A>G (SLC25A15)	ENSP00000415826.1:p.Thr106=
ENST00000470509.1:c.*139A>G (SLC25A15)	ENSP00000431429.1:n.*139A>G
ENST00000478827.1:n.943A>G (SLC25A15)
NM_014252.3:c.456A>G (SLC25A15)	NP_055067.1:p.Thr152=
NR_038258.1:n.623-6573T>C (TPTE2P5)
NR_038259.1:n.452-6573T>C (TPTE2P5)
NM_014252.4:c.456A>G (SLC25A15) MANE Select	NP_055067.1:p.Thr152=