Canonical Allele Identifier: CA387918375

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 1994067
• ClinVar RCV Id: RCV002806583
• MyVariant Identifiers: chr13:g.41381531T>C (hg19) ; chr13:g.40807395T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807395T>C , CM000675.2:g.40807395T>C	GRCh38
NC_000013.10:g.41381531T>C , CM000675.1:g.41381531T>C	GRCh37
NC_000013.9:g.40279531T>C	NCBI36
NG_012248.1:g.22985T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.554T>C (SLC25A15)	ENSP00000516711.1:p.Phe185Ser
ENST00000338625.9:c.554T>C (SLC25A15) MANE Select	ENSP00000342267.4:p.Phe185Ser
ENST00000338625.8:c.554T>C (SLC25A15)	ENSP00000342267.4:p.Phe185Ser
ENST00000470509.1:c.*237T>C (SLC25A15)	ENSP00000431429.1:n.*237T>C
ENST00000478827.1:n.1041T>C (SLC25A15)
NM_014252.3:c.554T>C (SLC25A15)	NP_055067.1:p.Phe185Ser
NR_038258.1:n.623-6671A>G (TPTE2P5)
NR_038259.1:n.452-6671A>G (TPTE2P5)
NM_014252.4:c.554T>C (SLC25A15) MANE Select	NP_055067.1:p.Phe185Ser