Canonical Allele Identifier: CA360694370
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081982G>A (hg19) chr5:g.110746281G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746281G>A , CM000667.2:g.110746281G>A GRCh38
NC_000005.9:g.110081982G>A , CM000667.1:g.110081982G>A GRCh37
NC_000005.8:g.110109881G>A NCBI36
NG_051334.1:g.13146G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.397G>A MANE Select ENSP00000348211.3:p.Ala133Thr
ENST00000355943.7:c.397G>A ENSP00000348211.3:p.Ala133Thr
ENST00000447245.6:c.397G>A ENSP00000399717.2:p.Ala133Thr
ENST00000502462.6:n.713G>A
ENST00000504098.1:c.-42G>A ENSP00000425708.1:n.-42G>A
ENST00000508781.5:n.226G>A
ENST00000513807.5:c.-90G>A ENSP00000421134.1:n.-90G>A
NM_001303249.1:c.397G>A NP_001290178.1:p.Ala133Thr
NM_001303250.1:c.124G>A NP_001290179.1:p.Ala42Thr
NM_138773.2:c.397G>A NP_620128.1:p.Ala133Thr
XM_011543708.1:c.397G>A XP_011542010.1:p.Ala133Thr
NM_001303249.2:c.397G>A NP_001290178.1:p.Ala133Thr
NM_001303250.2:c.124G>A NP_001290179.1:p.Ala42Thr
NM_138773.3:c.397G>A NP_620128.1:p.Ala133Thr
NR_138151.1:n.545G>A
NM_138773.4:c.397G>A MANE Select NP_620128.1:p.Ala133Thr
NM_001303249.3:c.397G>A NP_001290178.1:p.Ala133Thr
NM_001303250.3:c.124G>A NP_001290179.1:p.Ala42Thr
NR_138151.2:n.510G>A
Search 100 bp 5'
Search 100 bp 3'