Canonical Allele Identifier: CA3364734

Gene: SLC25A46

Linked Data

• dbSNP Id: rs746385272
• ExAC: 5:110096969 A / G
• gnomAD v2: 5-110096969-A-G
• gnomAD v4: 5-110761269-A-G
• MyVariant Identifiers: chr5:g.110096969A>G (hg19) ; chr5:g.110761269A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761269A>G , CM000667.2:g.110761269A>G	GRCh38
NC_000005.9:g.110096969A>G , CM000667.1:g.110096969A>G	GRCh37
NC_000005.8:g.110124868A>G	NCBI36
NG_051334.1:g.28134A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.744A>G MANE Select	ENSP00000348211.3:p.Ile248Met
ENST00000355943.7:c.744A>G	ENSP00000348211.3:p.Ile248Met
ENST00000447245.6:c.679-178A>G	ENSP00000399717.2:n.679-178A>G
ENST00000502462.6:n.1060A>G
ENST00000504098.1:c.306A>G	ENSP00000425708.1:p.Ile102Met
ENST00000509432.1:c.105A>G	ENSP00000426604.1:p.Ile35Met
ENST00000513706.2:n.2344A>G
ENST00000513807.5:c.258A>G	ENSP00000421134.1:p.Ile86Met
NM_001303249.1:c.679-178A>G	NP_001290178.1:n.679-178A>G
NM_001303250.1:c.471A>G	NP_001290179.1:p.Ile157Met
NM_138773.2:c.744A>G	NP_620128.1:p.Ile248Met
NM_001303249.2:c.679-178A>G	NP_001290178.1:n.679-178A>G
NM_001303250.2:c.471A>G	NP_001290179.1:p.Ile157Met
NM_138773.3:c.744A>G	NP_620128.1:p.Ile248Met
NR_138151.1:n.1018A>G
NM_138773.4:c.744A>G MANE Select	NP_620128.1:p.Ile248Met
NM_001303249.3:c.679-178A>G	NP_001290178.1:n.679-178A>G
NM_001303250.3:c.471A>G	NP_001290179.1:p.Ile157Met
NR_138151.2:n.983A>G