Canonical Allele Identifier: CA125343332
Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 1217549
ClinVar RCV Id: RCV001588222
dbSNP Id: rs73230125

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746176T>G , CM000667.2:g.110746176T>G GRCh38
NC_000005.9:g.110081877T>G , CM000667.1:g.110081877T>G GRCh37
NC_000005.8:g.110109776T>G NCBI36
NG_051334.1:g.13041T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.385-93T>G MANE Select ENSP00000348211.3:n.385-93T>G
ENST00000355943.7:c.385-93T>G ENSP00000348211.3:n.385-93T>G
ENST00000447245.6:c.385-93T>G ENSP00000399717.2:n.385-93T>G
ENST00000502462.6:n.608T>G
ENST00000504098.1:c.-54-93T>G ENSP00000425708.1:n.-54-93T>G
ENST00000508781.5:n.214-93T>G
ENST00000513807.5:c.-102-93T>G ENSP00000421134.1:n.-102-93T>G
NM_001303249.1:c.385-93T>G NP_001290178.1:n.385-93T>G
NM_001303250.1:c.112-93T>G NP_001290179.1:n.112-93T>G
NM_138773.2:c.385-93T>G NP_620128.1:n.385-93T>G
XM_011543708.1:c.385-93T>G XP_011542010.1:n.385-93T>G
NM_001303249.2:c.385-93T>G NP_001290178.1:n.385-93T>G
NM_001303250.2:c.112-93T>G NP_001290179.1:n.112-93T>G
NM_138773.3:c.385-93T>G NP_620128.1:n.385-93T>G
NR_138151.1:n.533-93T>G
NM_138773.4:c.385-93T>G MANE Select NP_620128.1:n.385-93T>G
NM_001303249.3:c.385-93T>G NP_001290178.1:n.385-93T>G
NM_001303250.3:c.112-93T>G NP_001290179.1:n.112-93T>G
NR_138151.2:n.498-93T>G