Canonical Allele Identifier: CA312980

Gene: SLC25A15 TPTE2P5

Linked Data

• ClinVar Variation Id: 203939
• ClinVar RCV Id: RCV000401214 ; RCV000726011 ; RCV001251645 ; RCV003907650
• dbSNP Id: rs34615430
• ExAC: 13:41373319 G / A
• gnomAD v2: 13-41373319-G-A
• gnomAD v3: 13-40799183-G-A
• gnomAD v4: 13-40799183-G-A
• MyVariant Identifiers: chr13:g.41373319G>A (hg19) ; chr13:g.40799183G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.40799183G>A , CM000675.2:g.40799183G>A	GRCh38
NC_000013.10:g.41373319G>A , CM000675.1:g.41373319G>A	GRCh37
NC_000013.9:g.40271319G>A	NCBI36
NG_012248.1:g.14773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000707033.1:c.182G>A (SLC25A15)	ENSP00000516711.1:p.Arg61His
ENST00000338625.9:c.182G>A (SLC25A15) MANE Select	ENSP00000342267.4:p.Arg61His
ENST00000338625.8:c.182G>A (SLC25A15)	ENSP00000342267.4:p.Arg61His
ENST00000417731.5:c.182G>A (SLC25A15)	ENSP00000415826.1:p.Arg61His
ENST00000470509.1:c.171+11G>A (SLC25A15)	ENSP00000431429.1:n.171+11G>A
ENST00000478827.1:n.503G>A (SLC25A15)
NM_014252.3:c.182G>A (SLC25A15)	NP_055067.1:p.Arg61His
NR_038258.1:n.2164C>T (TPTE2P5)
NR_038259.1:n.1993C>T (TPTE2P5)
NM_014252.4:c.182G>A (SLC25A15) MANE Select	NP_055067.1:p.Arg61His