Canonical Allele Identifier: CA1572423902
Gene: SLC25A46 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110761603C= , CM000667.2:g.110761603C= GRCh38
NC_000005.9:g.110097303C= , CM000667.1:g.110097303C= GRCh37
NC_000005.8:g.110125202C= NCBI36
NG_051334.1:g.28468C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000355943.8:c.1078C= MANE Select ENSP00000348211.3:p.Leu360=
ENST00000355943.7:c.1078C= ENSP00000348211.3:p.Leu360=
ENST00000447245.6:c.835C= ENSP00000399717.2:p.Leu279=
ENST00000502462.6:n.1394C=
ENST00000504098.1:c.640C= ENSP00000425708.1:p.Leu214=
ENST00000509432.1:c.439C= ENSP00000426604.1:p.Leu147=
ENST00000513706.2:n.2678C=
ENST00000513807.5:c.592C= ENSP00000421134.1:p.Leu198=
NM_001303249.1:c.835C= NP_001290178.1:p.Leu279=
NM_001303250.1:c.805C= NP_001290179.1:p.Leu269=
NM_138773.2:c.1078C= NP_620128.1:p.Leu360=
NM_001303249.2:c.835C= NP_001290178.1:p.Leu279=
NM_001303250.2:c.805C= NP_001290179.1:p.Leu269=
NM_138773.3:c.1078C= NP_620128.1:p.Leu360=
NR_138151.1:n.1352C=
NM_138773.4:c.1078C= MANE Select NP_620128.1:p.Leu360=
NM_001303249.3:c.835C= NP_001290178.1:p.Leu279=
NM_001303250.3:c.805C= NP_001290179.1:p.Leu269=
NR_138151.2:n.1317C=