Canonical Allele Identifier: CA125343340
Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 1031151
ClinVar RCV Id: RCV001332904
dbSNP Id: rs1007822688
MyVariant Identifiers: chr5:g.110081974A>C (hg19) chr5:g.110746273A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746273A>C , CM000667.2:g.110746273A>C GRCh38
NC_000005.9:g.110081974A>C , CM000667.1:g.110081974A>C GRCh37
NC_000005.8:g.110109873A>C NCBI36
NG_051334.1:g.13138A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.389A>C MANE Select ENSP00000348211.3:p.Asn130Thr
ENST00000355943.7:c.389A>C ENSP00000348211.3:p.Asn130Thr
ENST00000447245.6:c.389A>C ENSP00000399717.2:p.Asn130Thr
ENST00000502462.6:n.705A>C
ENST00000504098.1:c.-50A>C ENSP00000425708.1:n.-50A>C
ENST00000508781.5:n.218A>C
ENST00000513807.5:c.-98A>C ENSP00000421134.1:n.-98A>C
NM_001303249.1:c.389A>C NP_001290178.1:p.Asn130Thr
NM_001303250.1:c.116A>C NP_001290179.1:p.Asn39Thr
NM_138773.2:c.389A>C NP_620128.1:p.Asn130Thr
XM_011543708.1:c.389A>C XP_011542010.1:p.Asn130Thr
NM_001303249.2:c.389A>C NP_001290178.1:p.Asn130Thr
NM_001303250.2:c.116A>C NP_001290179.1:p.Asn39Thr
NM_138773.3:c.389A>C NP_620128.1:p.Asn130Thr
NR_138151.1:n.537A>C
NM_138773.4:c.389A>C MANE Select NP_620128.1:p.Asn130Thr
NM_001303249.3:c.389A>C NP_001290178.1:p.Asn130Thr
NM_001303250.3:c.116A>C NP_001290179.1:p.Asn39Thr
NR_138151.2:n.502A>C
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