Canonical Allele Identifier: CA3364720

Gene: SLC25A46

Linked Data

• dbSNP Id: rs763611060
• ExAC: 5:110096909 G / A
• gnomAD v2: 5-110096909-G-A
• gnomAD v4: 5-110761209-G-A
• MyVariant Identifiers: chr5:g.110096909G>A (hg19) ; chr5:g.110761209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761209G>A , CM000667.2:g.110761209G>A	GRCh38
NC_000005.9:g.110096909G>A , CM000667.1:g.110096909G>A	GRCh37
NC_000005.8:g.110124808G>A	NCBI36
NG_051334.1:g.28074G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.684G>A MANE Select	ENSP00000348211.3:p.Glu228=
ENST00000355943.7:c.684G>A	ENSP00000348211.3:p.Glu228=
ENST00000447245.6:c.679-238G>A	ENSP00000399717.2:n.679-238G>A
ENST00000502462.6:n.1000G>A
ENST00000504098.1:c.246G>A	ENSP00000425708.1:p.Glu82=
ENST00000509432.1:c.45G>A	ENSP00000426604.1:p.Glu15=
ENST00000513706.2:n.2284G>A
ENST00000513807.5:c.198G>A	ENSP00000421134.1:p.Glu66=
NM_001303249.1:c.679-238G>A	NP_001290178.1:n.679-238G>A
NM_001303250.1:c.411G>A	NP_001290179.1:p.Glu137=
NM_138773.2:c.684G>A	NP_620128.1:p.Glu228=
NM_001303249.2:c.679-238G>A	NP_001290178.1:n.679-238G>A
NM_001303250.2:c.411G>A	NP_001290179.1:p.Glu137=
NM_138773.3:c.684G>A	NP_620128.1:p.Glu228=
NR_138151.1:n.958G>A
NM_138773.4:c.684G>A MANE Select	NP_620128.1:p.Glu228=
NM_001303249.3:c.679-238G>A	NP_001290178.1:n.679-238G>A
NM_001303250.3:c.411G>A	NP_001290179.1:p.Glu137=
NR_138151.2:n.923G>A