Canonical Allele Identifier: CA1572423192
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761211T= , CM000667.2:g.110761211T= GRCh38
NC_000005.9:g.110096911T= , CM000667.1:g.110096911T= GRCh37
NC_000005.8:g.110124810T= NCBI36
NG_051334.1:g.28076T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.686T= MANE Select ENSP00000348211.3:p.Ile229=
ENST00000355943.7:c.686T= ENSP00000348211.3:p.Ile229=
ENST00000447245.6:c.679-236T= ENSP00000399717.2:n.679-236T=
ENST00000502462.6:n.1002T=
ENST00000504098.1:c.248T= ENSP00000425708.1:p.Ile83=
ENST00000509432.1:c.47T= ENSP00000426604.1:p.Ile16=
ENST00000513706.2:n.2286T=
ENST00000513807.5:c.200T= ENSP00000421134.1:p.Ile67=
NM_001303249.1:c.679-236T= NP_001290178.1:n.679-236T=
NM_001303250.1:c.413T= NP_001290179.1:p.Ile138=
NM_138773.2:c.686T= NP_620128.1:p.Ile229=
NM_001303249.2:c.679-236T= NP_001290178.1:n.679-236T=
NM_001303250.2:c.413T= NP_001290179.1:p.Ile138=
NM_138773.3:c.686T= NP_620128.1:p.Ile229=
NR_138151.1:n.960T=
NM_138773.4:c.686T= MANE Select NP_620128.1:p.Ile229=
NM_001303249.3:c.679-236T= NP_001290178.1:n.679-236T=
NM_001303250.3:c.413T= NP_001290179.1:p.Ile138=
NR_138151.2:n.925T=