Canonical Allele Identifier: CA6959765

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs781425166
• ExAC: 13:41381557 A / G
• gnomAD v2: 13-41381557-A-G
• gnomAD v4: 13-40807421-A-G
• MyVariant Identifiers: chr13:g.41381557A>G (hg19) ; chr13:g.40807421A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807421A>G , CM000675.2:g.40807421A>G	GRCh38
NC_000013.10:g.41381557A>G , CM000675.1:g.41381557A>G	GRCh37
NC_000013.9:g.40279557A>G	NCBI36
NG_012248.1:g.23011A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.580A>G (SLC25A15)	ENSP00000516711.1:p.Ser194Gly
ENST00000338625.9:c.580A>G (SLC25A15) MANE Select	ENSP00000342267.4:p.Ser194Gly
ENST00000338625.8:c.580A>G (SLC25A15)	ENSP00000342267.4:p.Ser194Gly
ENST00000470509.1:c.*263A>G (SLC25A15)	ENSP00000431429.1:n.*263A>G
ENST00000478827.1:n.1067A>G (SLC25A15)
NM_014252.3:c.580A>G (SLC25A15)	NP_055067.1:p.Ser194Gly
NR_038258.1:n.623-6697T>C (TPTE2P5)
NR_038259.1:n.452-6697T>C (TPTE2P5)
NM_014252.4:c.580A>G (SLC25A15) MANE Select	NP_055067.1:p.Ser194Gly