Canonical Allele Identifier: CA360697777

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097424C>A (hg19) ; chr5:g.110761724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761724C>A , CM000667.2:g.110761724C>A	GRCh38
NC_000005.9:g.110097424C>A , CM000667.1:g.110097424C>A	GRCh37
NC_000005.8:g.110125323C>A	NCBI36
NG_051334.1:g.28589C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1199C>A MANE Select	ENSP00000348211.3:p.Ala400Glu
ENST00000355943.7:c.1199C>A	ENSP00000348211.3:p.Ala400Glu
ENST00000447245.6:c.956C>A	ENSP00000399717.2:p.Ala319Glu
ENST00000504098.1:c.761C>A	ENSP00000425708.1:p.Ala254Glu
ENST00000509432.1:c.560C>A	ENSP00000426604.1:p.Ala187Glu
ENST00000513706.2:n.2799C>A
ENST00000513807.5:c.713C>A	ENSP00000421134.1:p.Ala238Glu
NM_001303249.1:c.956C>A	NP_001290178.1:p.Ala319Glu
NM_001303250.1:c.926C>A	NP_001290179.1:p.Ala309Glu
NM_138773.2:c.1199C>A	NP_620128.1:p.Ala400Glu
NM_001303249.2:c.956C>A	NP_001290178.1:p.Ala319Glu
NM_001303250.2:c.926C>A	NP_001290179.1:p.Ala309Glu
NM_138773.3:c.1199C>A	NP_620128.1:p.Ala400Glu
NR_138151.1:n.1473C>A
NM_138773.4:c.1199C>A MANE Select	NP_620128.1:p.Ala400Glu
NM_001303249.3:c.956C>A	NP_001290178.1:p.Ala319Glu
NM_001303250.3:c.926C>A	NP_001290179.1:p.Ala309Glu
NR_138151.2:n.1438C>A