Canonical Allele Identifier: CA16044170
Gene: SLC25A46 HGNC NCBI

Linked Data

ClinVar Variation Id: 372237
ClinVar RCV Id: RCV000412574
dbSNP Id: rs1057519416

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110739285dup , CM000667.2:g.110739285dup GRCh38
NC_000005.9:g.110074986dup , CM000667.1:g.110074986dup GRCh37
NC_000005.8:g.110102885dup NCBI36
NG_051334.1:g.6150dup

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.166dup MANE Select ENSP00000348211.3:p.His56ProfsTer?
ENST00000355943.7:c.166dup ENSP00000348211.3:p.His56ProfsTer?
ENST00000447245.6:c.166dup ENSP00000399717.2:p.His56ProfsTer?
ENST00000508781.5:n.112+1038dup
ENST00000513807.5:c.-204+1038dup ENSP00000421134.1:n.-204+1038dup
NM_001303249.1:c.166dup NP_001290178.1:p.His56ProfsTer?
NM_001303250.1:c.10+1038dup NP_001290179.1:n.10+1038dup
NM_138773.2:c.166dup NP_620128.1:p.His56ProfsTer?
XM_011543708.1:c.166dup XP_011542010.1:p.His56ProfsTer?
NM_001303249.2:c.166dup NP_001290178.1:p.His56ProfsTer?
NM_001303250.2:c.10+1038dup NP_001290179.1:n.10+1038dup
NM_138773.3:c.166dup NP_620128.1:p.His56ProfsTer?
NR_138151.1:n.314dup
NM_138773.4:c.166dup MANE Select NP_620128.1:p.His56ProfsTer?
NM_001303249.3:c.166dup NP_001290178.1:p.His56ProfsTer?
NM_001303250.3:c.10+1038dup NP_001290179.1:n.10+1038dup
NR_138151.2:n.279dup