Canonical Allele Identifier: CA1572423792
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761528G= , CM000667.2:g.110761528G= GRCh38
NC_000005.9:g.110097228G= , CM000667.1:g.110097228G= GRCh37
NC_000005.8:g.110125127G= NCBI36
NG_051334.1:g.28393G=

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.1003G= MANE Select ENSP00000348211.3:p.Glu335=
ENST00000355943.7:c.1003G= ENSP00000348211.3:p.Glu335=
ENST00000447245.6:c.760G= ENSP00000399717.2:p.Glu254=
ENST00000502462.6:n.1319G=
ENST00000504098.1:c.565G= ENSP00000425708.1:p.Glu189=
ENST00000509432.1:c.364G= ENSP00000426604.1:p.Glu122=
ENST00000513706.2:n.2603G=
ENST00000513807.5:c.517G= ENSP00000421134.1:p.Glu173=
NM_001303249.1:c.760G= NP_001290178.1:p.Glu254=
NM_001303250.1:c.730G= NP_001290179.1:p.Glu244=
NM_138773.2:c.1003G= NP_620128.1:p.Glu335=
NM_001303249.2:c.760G= NP_001290178.1:p.Glu254=
NM_001303250.2:c.730G= NP_001290179.1:p.Glu244=
NM_138773.3:c.1003G= NP_620128.1:p.Glu335=
NR_138151.1:n.1277G=
NM_138773.4:c.1003G= MANE Select NP_620128.1:p.Glu335=
NM_001303249.3:c.760G= NP_001290178.1:p.Glu254=
NM_001303250.3:c.730G= NP_001290179.1:p.Glu244=
NR_138151.2:n.1242G=