Canonical Allele Identifier: CA360696495
Gene: SLC25A46 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761453T>G , CM000667.2:g.110761453T>G GRCh38
NC_000005.9:g.110097153T>G , CM000667.1:g.110097153T>G GRCh37
NC_000005.8:g.110125052T>G NCBI36
NG_051334.1:g.28318T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.928T>G MANE Select ENSP00000348211.3:p.Leu310Val
ENST00000355943.7:c.928T>G ENSP00000348211.3:p.Leu310Val
ENST00000447245.6:c.685T>G ENSP00000399717.2:p.Leu229Val
ENST00000502462.6:n.1244T>G
ENST00000504098.1:c.490T>G ENSP00000425708.1:p.Leu164Val
ENST00000509432.1:c.289T>G ENSP00000426604.1:p.Leu97Val
ENST00000513706.2:n.2528T>G
ENST00000513807.5:c.442T>G ENSP00000421134.1:p.Leu148Val
NM_001303249.1:c.685T>G NP_001290178.1:p.Leu229Val
NM_001303250.1:c.655T>G NP_001290179.1:p.Leu219Val
NM_138773.2:c.928T>G NP_620128.1:p.Leu310Val
NM_001303249.2:c.685T>G NP_001290178.1:p.Leu229Val
NM_001303250.2:c.655T>G NP_001290179.1:p.Leu219Val
NM_138773.3:c.928T>G NP_620128.1:p.Leu310Val
NR_138151.1:n.1202T>G
NM_138773.4:c.928T>G MANE Select NP_620128.1:p.Leu310Val
NM_001303249.3:c.685T>G NP_001290178.1:p.Leu229Val
NM_001303250.3:c.655T>G NP_001290179.1:p.Leu219Val
NR_138151.2:n.1167T>G