Canonical Allele Identifier: CA360695983
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761208A>G , CM000667.2:g.110761208A>G GRCh38
NC_000005.9:g.110096908A>G , CM000667.1:g.110096908A>G GRCh37
NC_000005.8:g.110124807A>G NCBI36
NG_051334.1:g.28073A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.683A>G MANE Select ENSP00000348211.3:p.Glu228Gly
ENST00000355943.7:c.683A>G ENSP00000348211.3:p.Glu228Gly
ENST00000447245.6:c.679-239A>G ENSP00000399717.2:n.679-239A>G
ENST00000502462.6:n.999A>G
ENST00000504098.1:c.245A>G ENSP00000425708.1:p.Glu82Gly
ENST00000509432.1:c.44A>G ENSP00000426604.1:p.Glu15Gly
ENST00000513706.2:n.2283A>G
ENST00000513807.5:c.197A>G ENSP00000421134.1:p.Glu66Gly
NM_001303249.1:c.679-239A>G NP_001290178.1:n.679-239A>G
NM_001303250.1:c.410A>G NP_001290179.1:p.Glu137Gly
NM_138773.2:c.683A>G NP_620128.1:p.Glu228Gly
NM_001303249.2:c.679-239A>G NP_001290178.1:n.679-239A>G
NM_001303250.2:c.410A>G NP_001290179.1:p.Glu137Gly
NM_138773.3:c.683A>G NP_620128.1:p.Glu228Gly
NR_138151.1:n.957A>G
NM_138773.4:c.683A>G MANE Select NP_620128.1:p.Glu228Gly
NM_001303249.3:c.679-239A>G NP_001290178.1:n.679-239A>G
NM_001303250.3:c.410A>G NP_001290179.1:p.Glu137Gly
NR_138151.2:n.922A>G