Canonical Allele Identifier: CA445802336
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110082002T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746301T>G , CM000667.2:g.110746301T>G GRCh38
NC_000005.9:g.110082002T>G , CM000667.1:g.110082002T>G GRCh37
NC_000005.8:g.110109901T>G NCBI36
NG_051334.1:g.13166T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.417T>G MANE Select ENSP00000348211.3:p.Thr139=
ENST00000355943.7:c.417T>G ENSP00000348211.3:p.Thr139=
ENST00000447245.6:c.417T>G ENSP00000399717.2:p.Thr139=
ENST00000502462.6:n.733T>G
ENST00000504098.1:c.-22T>G ENSP00000425708.1:n.-22T>G
ENST00000508781.5:n.246T>G
ENST00000513807.5:c.-70T>G ENSP00000421134.1:n.-70T>G
NM_001303249.1:c.417T>G NP_001290178.1:p.Thr139=
NM_001303250.1:c.144T>G NP_001290179.1:p.Thr48=
NM_138773.2:c.417T>G NP_620128.1:p.Thr139=
XM_011543708.1:c.417T>G XP_011542010.1:p.Thr139=
NM_001303249.2:c.417T>G NP_001290178.1:p.Thr139=
NM_001303250.2:c.144T>G NP_001290179.1:p.Thr48=
NM_138773.3:c.417T>G NP_620128.1:p.Thr139=
NR_138151.1:n.565T>G
NM_138773.4:c.417T>G MANE Select NP_620128.1:p.Thr139=
NM_001303249.3:c.417T>G NP_001290178.1:p.Thr139=
NM_001303250.3:c.144T>G NP_001290179.1:p.Thr48=
NR_138151.2:n.530T>G