Canonical Allele Identifier: CA387918467

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs1882236317
• gnomAD v4: 13-40807419-T-C
• MyVariant Identifiers: chr13:g.41381555T>C (hg19) ; chr13:g.40807419T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807419T>C , CM000675.2:g.40807419T>C	GRCh38
NC_000013.10:g.41381555T>C , CM000675.1:g.41381555T>C	GRCh37
NC_000013.9:g.40279555T>C	NCBI36
NG_012248.1:g.23009T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.578T>C (SLC25A15)	ENSP00000516711.1:p.Leu193Pro
ENST00000338625.9:c.578T>C (SLC25A15) MANE Select	ENSP00000342267.4:p.Leu193Pro
ENST00000338625.8:c.578T>C (SLC25A15)	ENSP00000342267.4:p.Leu193Pro
ENST00000470509.1:c.*261T>C (SLC25A15)	ENSP00000431429.1:n.*261T>C
ENST00000478827.1:n.1065T>C (SLC25A15)
NM_014252.3:c.578T>C (SLC25A15)	NP_055067.1:p.Leu193Pro
NR_038258.1:n.623-6695A>G (TPTE2P5)
NR_038259.1:n.452-6695A>G (TPTE2P5)
NM_014252.4:c.578T>C (SLC25A15) MANE Select	NP_055067.1:p.Leu193Pro