Canonical Allele Identifier: CA483461346

Gene: SLC25A15 TPTE2P5

Linked Data

• dbSNP Id: rs1480480185
• gnomAD v2: 13-41381559-C-T
• MyVariant Identifiers: chr13:g.41381559C>T (hg19) ; chr13:g.40807423C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40807423C>T , CM000675.2:g.40807423C>T	GRCh38
NC_000013.10:g.41381559C>T , CM000675.1:g.41381559C>T	GRCh37
NC_000013.9:g.40279559C>T	NCBI36
NG_012248.1:g.23013C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000707033.1:c.582C>T (SLC25A15)	ENSP00000516711.1:p.Ser194=
ENST00000338625.9:c.582C>T (SLC25A15) MANE Select	ENSP00000342267.4:p.Ser194=
ENST00000338625.8:c.582C>T (SLC25A15)	ENSP00000342267.4:p.Ser194=
ENST00000470509.1:c.*265C>T (SLC25A15)	ENSP00000431429.1:n.*265C>T
ENST00000478827.1:n.1069C>T (SLC25A15)
NM_014252.3:c.582C>T (SLC25A15)	NP_055067.1:p.Ser194=
NR_038258.1:n.623-6699G>A (TPTE2P5)
NR_038259.1:n.452-6699G>A (TPTE2P5)
NM_014252.4:c.582C>T (SLC25A15) MANE Select	NP_055067.1:p.Ser194=