Canonical Allele Identifier: CA360695994
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761213A>T , CM000667.2:g.110761213A>T GRCh38
NC_000005.9:g.110096913A>T , CM000667.1:g.110096913A>T GRCh37
NC_000005.8:g.110124812A>T NCBI36
NG_051334.1:g.28078A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.688A>T MANE Select ENSP00000348211.3:p.Ile230Phe
ENST00000355943.7:c.688A>T ENSP00000348211.3:p.Ile230Phe
ENST00000447245.6:c.679-234A>T ENSP00000399717.2:n.679-234A>T
ENST00000502462.6:n.1004A>T
ENST00000504098.1:c.250A>T ENSP00000425708.1:p.Ile84Phe
ENST00000509432.1:c.49A>T ENSP00000426604.1:p.Ile17Phe
ENST00000513706.2:n.2288A>T
ENST00000513807.5:c.202A>T ENSP00000421134.1:p.Ile68Phe
NM_001303249.1:c.679-234A>T NP_001290178.1:n.679-234A>T
NM_001303250.1:c.415A>T NP_001290179.1:p.Ile139Phe
NM_138773.2:c.688A>T NP_620128.1:p.Ile230Phe
NM_001303249.2:c.679-234A>T NP_001290178.1:n.679-234A>T
NM_001303250.2:c.415A>T NP_001290179.1:p.Ile139Phe
NM_138773.3:c.688A>T NP_620128.1:p.Ile230Phe
NR_138151.1:n.962A>T
NM_138773.4:c.688A>T MANE Select NP_620128.1:p.Ile230Phe
NM_001303249.3:c.679-234A>T NP_001290178.1:n.679-234A>T
NM_001303250.3:c.415A>T NP_001290179.1:p.Ile139Phe
NR_138151.2:n.927A>T