Canonical Allele Identifier: CA360697702
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761709A>T , CM000667.2:g.110761709A>T GRCh38
NC_000005.9:g.110097409A>T , CM000667.1:g.110097409A>T GRCh37
NC_000005.8:g.110125308A>T NCBI36
NG_051334.1:g.28574A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1184A>T MANE Select ENSP00000348211.3:p.Gln395Leu
ENST00000355943.7:c.1184A>T ENSP00000348211.3:p.Gln395Leu
ENST00000447245.6:c.941A>T ENSP00000399717.2:p.Gln314Leu
ENST00000504098.1:c.746A>T ENSP00000425708.1:p.Gln249Leu
ENST00000509432.1:c.545A>T ENSP00000426604.1:p.Gln182Leu
ENST00000513706.2:n.2784A>T
ENST00000513807.5:c.698A>T ENSP00000421134.1:p.Gln233Leu
NM_001303249.1:c.941A>T NP_001290178.1:p.Gln314Leu
NM_001303250.1:c.911A>T NP_001290179.1:p.Gln304Leu
NM_138773.2:c.1184A>T NP_620128.1:p.Gln395Leu
NM_001303249.2:c.941A>T NP_001290178.1:p.Gln314Leu
NM_001303250.2:c.911A>T NP_001290179.1:p.Gln304Leu
NM_138773.3:c.1184A>T NP_620128.1:p.Gln395Leu
NR_138151.1:n.1458A>T
NM_138773.4:c.1184A>T MANE Select NP_620128.1:p.Gln395Leu
NM_001303249.3:c.941A>T NP_001290178.1:p.Gln314Leu
NM_001303250.3:c.911A>T NP_001290179.1:p.Gln304Leu
NR_138151.2:n.1423A>T