Canonical Allele Identifier: CA360697804

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097432T>G (hg19) ; chr5:g.110761732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761732T>G , CM000667.2:g.110761732T>G	GRCh38
NC_000005.9:g.110097432T>G , CM000667.1:g.110097432T>G	GRCh37
NC_000005.8:g.110125331T>G	NCBI36
NG_051334.1:g.28597T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1207T>G MANE Select	ENSP00000348211.3:p.Leu403Val
ENST00000355943.7:c.1207T>G	ENSP00000348211.3:p.Leu403Val
ENST00000447245.6:c.964T>G	ENSP00000399717.2:p.Leu322Val
ENST00000504098.1:c.769T>G	ENSP00000425708.1:p.Leu257Val
ENST00000509432.1:c.568T>G	ENSP00000426604.1:p.Leu190Val
ENST00000513706.2:n.2807T>G
ENST00000513807.5:c.721T>G	ENSP00000421134.1:p.Leu241Val
NM_001303249.1:c.964T>G	NP_001290178.1:p.Leu322Val
NM_001303250.1:c.934T>G	NP_001290179.1:p.Leu312Val
NM_138773.2:c.1207T>G	NP_620128.1:p.Leu403Val
NM_001303249.2:c.964T>G	NP_001290178.1:p.Leu322Val
NM_001303250.2:c.934T>G	NP_001290179.1:p.Leu312Val
NM_138773.3:c.1207T>G	NP_620128.1:p.Leu403Val
NR_138151.1:n.1481T>G
NM_138773.4:c.1207T>G MANE Select	NP_620128.1:p.Leu403Val
NM_001303249.3:c.964T>G	NP_001290178.1:p.Leu322Val
NM_001303250.3:c.934T>G	NP_001290179.1:p.Leu312Val
NR_138151.2:n.1446T>G