Canonical Allele Identifier: CA340491

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 5996
• ClinVar RCV Id: RCV000006362
• dbSNP Id: rs104894431
• gnomAD v2: 13-41383721-G-A
• gnomAD v3: 13-40809585-G-A
• gnomAD v4: 13-40809585-G-A
• MyVariant Identifiers: chr13:g.41383721G>A (hg19) ; chr13:g.40809585G>A (hg38)
• PubMed: PMID:11552031 ; PMID:22649802

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40809585G>A , CM000675.2:g.40809585G>A	GRCh38
NC_000013.10:g.41383721G>A , CM000675.1:g.41383721G>A	GRCh37
NC_000013.9:g.40281721G>A	NCBI36
NG_012248.1:g.25175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.824G>A (SLC25A15)	ENSP00000516711.1:p.Arg275Gln
ENST00000338625.9:c.824G>A (SLC25A15) MANE Select	ENSP00000342267.4:p.Arg275Gln
ENST00000338625.8:c.824G>A (SLC25A15)	ENSP00000342267.4:p.Arg275Gln
NM_014252.3:c.824G>A (SLC25A15)	NP_055067.1:p.Arg275Gln
NR_038258.1:n.623-8861C>T (TPTE2P5)
NR_038259.1:n.452-8861C>T (TPTE2P5)
NM_014252.4:c.824G>A (SLC25A15) MANE Select	NP_055067.1:p.Arg275Gln