Canonical Allele Identifier: CA1572423652
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.928T= MANE Select ENSP00000348211.3:p.Leu310=
ENST00000355943.7:c.928T= ENSP00000348211.3:p.Leu310=
ENST00000447245.6:c.685T= ENSP00000399717.2:p.Leu229=
ENST00000502462.6:n.1244T=
ENST00000504098.1:c.490T= ENSP00000425708.1:p.Leu164=
ENST00000509432.1:c.289T= ENSP00000426604.1:p.Leu97=
ENST00000513706.2:n.2528T=
ENST00000513807.5:c.442T= ENSP00000421134.1:p.Leu148=
NM_001303249.1:c.685T= NP_001290178.1:p.Leu229=
NM_001303250.1:c.655T= NP_001290179.1:p.Leu219=
NM_138773.2:c.928T= NP_620128.1:p.Leu310=
NM_001303249.2:c.685T= NP_001290178.1:p.Leu229=
NM_001303250.2:c.655T= NP_001290179.1:p.Leu219=
NM_138773.3:c.928T= NP_620128.1:p.Leu310=
NR_138151.1:n.1202T=
NM_138773.4:c.928T= MANE Select NP_620128.1:p.Leu310=
NM_001303249.3:c.685T= NP_001290178.1:p.Leu229=
NM_001303250.3:c.655T= NP_001290179.1:p.Leu219=
NR_138151.2:n.1167T=