Canonical Allele Identifier: CA360696034
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761234T>A , CM000667.2:g.110761234T>A GRCh38
NC_000005.9:g.110096934T>A , CM000667.1:g.110096934T>A GRCh37
NC_000005.8:g.110124833T>A NCBI36
NG_051334.1:g.28099T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.709T>A MANE Select ENSP00000348211.3:p.Leu237Met
ENST00000355943.7:c.709T>A ENSP00000348211.3:p.Leu237Met
ENST00000447245.6:c.679-213T>A ENSP00000399717.2:n.679-213T>A
ENST00000502462.6:n.1025T>A
ENST00000504098.1:c.271T>A ENSP00000425708.1:p.Leu91Met
ENST00000509432.1:c.70T>A ENSP00000426604.1:p.Leu24Met
ENST00000513706.2:n.2309T>A
ENST00000513807.5:c.223T>A ENSP00000421134.1:p.Leu75Met
NM_001303249.1:c.679-213T>A NP_001290178.1:n.679-213T>A
NM_001303250.1:c.436T>A NP_001290179.1:p.Leu146Met
NM_138773.2:c.709T>A NP_620128.1:p.Leu237Met
NM_001303249.2:c.679-213T>A NP_001290178.1:n.679-213T>A
NM_001303250.2:c.436T>A NP_001290179.1:p.Leu146Met
NM_138773.3:c.709T>A NP_620128.1:p.Leu237Met
NR_138151.1:n.983T>A
NM_138773.4:c.709T>A MANE Select NP_620128.1:p.Leu237Met
NM_001303249.3:c.679-213T>A NP_001290178.1:n.679-213T>A
NM_001303250.3:c.436T>A NP_001290179.1:p.Leu146Met
NR_138151.2:n.948T>A