Canonical Allele Identifier: CA340492

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 5997
• ClinVar RCV Id: RCV000006363
• dbSNP Id: rs121908533
• MyVariant Identifiers: chr13:g.41373247T>G (hg19) ; chr13:g.40799111T>G (hg38)
• PubMed: PMID:19242930 ; PMID:22649802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40799111T>G , CM000675.2:g.40799111T>G	GRCh38
NC_000013.10:g.41373247T>G , CM000675.1:g.41373247T>G	GRCh37
NC_000013.9:g.40271247T>G	NCBI36
NG_012248.1:g.14701T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.110T>G (SLC25A15)	ENSP00000516711.1:p.Met37Arg
ENST00000338625.9:c.110T>G (SLC25A15) MANE Select	ENSP00000342267.4:p.Met37Arg
ENST00000338625.8:c.110T>G (SLC25A15)	ENSP00000342267.4:p.Met37Arg
ENST00000417731.5:c.110T>G (SLC25A15)	ENSP00000415826.1:p.Met37Arg
ENST00000470509.1:c.110T>G (SLC25A15)	ENSP00000431429.1:p.Met37Arg
ENST00000478827.1:n.431T>G (SLC25A15)
NM_014252.3:c.110T>G (SLC25A15)	NP_055067.1:p.Met37Arg
NR_038258.1:n.2236A>C (TPTE2P5)
NR_038259.1:n.2065A>C (TPTE2P5)
NM_014252.4:c.110T>G (SLC25A15) MANE Select	NP_055067.1:p.Met37Arg