Canonical Allele Identifier: CA1572423869
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761588C= , CM000667.2:g.110761588C= GRCh38
NC_000005.9:g.110097288C= , CM000667.1:g.110097288C= GRCh37
NC_000005.8:g.110125187C= NCBI36
NG_051334.1:g.28453C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1063C= MANE Select ENSP00000348211.3:p.Leu355=
ENST00000355943.7:c.1063C= ENSP00000348211.3:p.Leu355=
ENST00000447245.6:c.820C= ENSP00000399717.2:p.Leu274=
ENST00000502462.6:n.1379C=
ENST00000504098.1:c.625C= ENSP00000425708.1:p.Leu209=
ENST00000509432.1:c.424C= ENSP00000426604.1:p.Leu142=
ENST00000513706.2:n.2663C=
ENST00000513807.5:c.577C= ENSP00000421134.1:p.Leu193=
NM_001303249.1:c.820C= NP_001290178.1:p.Leu274=
NM_001303250.1:c.790C= NP_001290179.1:p.Leu264=
NM_138773.2:c.1063C= NP_620128.1:p.Leu355=
NM_001303249.2:c.820C= NP_001290178.1:p.Leu274=
NM_001303250.2:c.790C= NP_001290179.1:p.Leu264=
NM_138773.3:c.1063C= NP_620128.1:p.Leu355=
NR_138151.1:n.1337C=
NM_138773.4:c.1063C= MANE Select NP_620128.1:p.Leu355=
NM_001303249.3:c.820C= NP_001290178.1:p.Leu274=
NM_001303250.3:c.790C= NP_001290179.1:p.Leu264=
NR_138151.2:n.1302C=