Canonical Allele Identifier: CA6959807

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 432095
• ClinVar RCV Id: RCV000498164 ; RCV001086827 ; RCV002265783 ; RCV004023330
• dbSNP Id: rs142236568
• ExAC: 13:41382657 A / G
• gnomAD v2: 13-41382657-A-G
• gnomAD v3: 13-40808521-A-G
• gnomAD v4: 13-40808521-A-G
• MyVariant Identifiers: chr13:g.41382657A>G (hg19) ; chr13:g.40808521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40808521A>G , CM000675.2:g.40808521A>G	GRCh38
NC_000013.10:g.41382657A>G , CM000675.1:g.41382657A>G	GRCh37
NC_000013.9:g.40280657A>G	NCBI36
NG_012248.1:g.24111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.706A>G (SLC25A15)	ENSP00000516711.1:p.Arg236Gly
ENST00000338625.9:c.706A>G (SLC25A15) MANE Select	ENSP00000342267.4:p.Arg236Gly
ENST00000338625.8:c.706A>G (SLC25A15)	ENSP00000342267.4:p.Arg236Gly
NM_014252.3:c.706A>G (SLC25A15)	NP_055067.1:p.Arg236Gly
NR_038258.1:n.623-7797T>C (TPTE2P5)
NR_038259.1:n.452-7797T>C (TPTE2P5)
NM_014252.4:c.706A>G (SLC25A15) MANE Select	NP_055067.1:p.Arg236Gly