Canonical Allele Identifier: CA387918424

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs1289409545
• gnomAD v4: 13-40807407-G-A
• MyVariant Identifiers: chr13:g.41381543G>A (hg19) ; chr13:g.40807407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807407G>A , CM000675.2:g.40807407G>A	GRCh38
NC_000013.10:g.41381543G>A , CM000675.1:g.41381543G>A	GRCh37
NC_000013.9:g.40279543G>A	NCBI36
NG_012248.1:g.22997G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.566G>A (SLC25A15)	ENSP00000516711.1:p.Gly189Asp
ENST00000338625.9:c.566G>A (SLC25A15) MANE Select	ENSP00000342267.4:p.Gly189Asp
ENST00000338625.8:c.566G>A (SLC25A15)	ENSP00000342267.4:p.Gly189Asp
ENST00000470509.1:c.*249G>A (SLC25A15)	ENSP00000431429.1:n.*249G>A
ENST00000478827.1:n.1053G>A (SLC25A15)
NM_014252.3:c.566G>A (SLC25A15)	NP_055067.1:p.Gly189Asp
NR_038258.1:n.623-6683C>T (TPTE2P5)
NR_038259.1:n.452-6683C>T (TPTE2P5)
NM_014252.4:c.566G>A (SLC25A15) MANE Select	NP_055067.1:p.Gly189Asp