Canonical Allele Identifier: CA360697014
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761585G>C , CM000667.2:g.110761585G>C GRCh38
NC_000005.9:g.110097285G>C , CM000667.1:g.110097285G>C GRCh37
NC_000005.8:g.110125184G>C NCBI36
NG_051334.1:g.28450G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1060G>C MANE Select ENSP00000348211.3:p.Asp354His
ENST00000355943.7:c.1060G>C ENSP00000348211.3:p.Asp354His
ENST00000447245.6:c.817G>C ENSP00000399717.2:p.Asp273His
ENST00000502462.6:n.1376G>C
ENST00000504098.1:c.622G>C ENSP00000425708.1:p.Asp208His
ENST00000509432.1:c.421G>C ENSP00000426604.1:p.Asp141His
ENST00000513706.2:n.2660G>C
ENST00000513807.5:c.574G>C ENSP00000421134.1:p.Asp192His
NM_001303249.1:c.817G>C NP_001290178.1:p.Asp273His
NM_001303250.1:c.787G>C NP_001290179.1:p.Asp263His
NM_138773.2:c.1060G>C NP_620128.1:p.Asp354His
NM_001303249.2:c.817G>C NP_001290178.1:p.Asp273His
NM_001303250.2:c.787G>C NP_001290179.1:p.Asp263His
NM_138773.3:c.1060G>C NP_620128.1:p.Asp354His
NR_138151.1:n.1334G>C
NM_138773.4:c.1060G>C MANE Select NP_620128.1:p.Asp354His
NM_001303249.3:c.817G>C NP_001290178.1:p.Asp273His
NM_001303250.3:c.787G>C NP_001290179.1:p.Asp263His
NR_138151.2:n.1299G>C