Canonical Allele Identifier: CA2581498694
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761854C>T , CM000667.2:g.110761854C>T GRCh38
NC_000005.9:g.110097554C>T , CM000667.1:g.110097554C>T GRCh37
NC_000005.8:g.110125453C>T NCBI36
NG_051334.1:g.28719C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.*72C>T MANE Select ENSP00000348211.3:n.*72C>T
ENST00000355943.7:c.*72C>T ENSP00000348211.3:n.*72C>T
ENST00000447245.6:c.*72C>T ENSP00000399717.2:n.*72C>T
ENST00000504098.1:c.*72C>T ENSP00000425708.1:n.*72C>T
ENST00000509432.1:c.*72C>T ENSP00000426604.1:n.*72C>T
ENST00000513706.2:n.2929C>T
ENST00000513807.5:c.*72C>T ENSP00000421134.1:n.*72C>T
NM_001303249.1:c.*72C>T NP_001290178.1:n.*72C>T
NM_001303250.1:c.*72C>T NP_001290179.1:n.*72C>T
NM_138773.2:c.*72C>T NP_620128.1:n.*72C>T
NM_001303249.2:c.*72C>T NP_001290178.1:n.*72C>T
NM_001303250.2:c.*72C>T NP_001290179.1:n.*72C>T
NM_138773.3:c.*72C>T NP_620128.1:n.*72C>T
NR_138151.1:n.1603C>T
NM_138773.4:c.*72C>T MANE Select NP_620128.1:n.*72C>T
NM_001303249.3:c.*72C>T NP_001290178.1:n.*72C>T
NM_001303250.3:c.*72C>T NP_001290179.1:n.*72C>T
NR_138151.2:n.1568C>T