Canonical Allele Identifier: CA2573138639
Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 1548851
ClinVar RCV Id: RCV002180137
dbSNP Id: rs1392231722

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761187C>T , CM000667.2:g.110761187C>T GRCh38
NC_000005.9:g.110096887C>T , CM000667.1:g.110096887C>T GRCh37
NC_000005.8:g.110124786C>T NCBI36
NG_051334.1:g.28052C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.679-17C>T MANE Select ENSP00000348211.3:n.679-17C>T
ENST00000355943.7:c.679-17C>T ENSP00000348211.3:n.679-17C>T
ENST00000447245.6:c.679-260C>T ENSP00000399717.2:n.679-260C>T
ENST00000502462.6:n.995-17C>T
ENST00000504098.1:c.241-17C>T ENSP00000425708.1:n.241-17C>T
ENST00000509432.1:c.40-17C>T ENSP00000426604.1:n.40-17C>T
ENST00000513706.2:n.2279-17C>T
ENST00000513807.5:c.193-17C>T ENSP00000421134.1:n.193-17C>T
NM_001303249.1:c.679-260C>T NP_001290178.1:n.679-260C>T
NM_001303250.1:c.406-17C>T NP_001290179.1:n.406-17C>T
NM_138773.2:c.679-17C>T NP_620128.1:n.679-17C>T
NM_001303249.2:c.679-260C>T NP_001290178.1:n.679-260C>T
NM_001303250.2:c.406-17C>T NP_001290179.1:n.406-17C>T
NM_138773.3:c.679-17C>T NP_620128.1:n.679-17C>T
NR_138151.1:n.953-17C>T
NM_138773.4:c.679-17C>T MANE Select NP_620128.1:n.679-17C>T
NM_001303249.3:c.679-260C>T NP_001290178.1:n.679-260C>T
NM_001303250.3:c.406-17C>T NP_001290179.1:n.406-17C>T
NR_138151.2:n.918-17C>T