Canonical Allele Identifier: CA360695990

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096911T>G (hg19) ; chr5:g.110761211T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761211T>G , CM000667.2:g.110761211T>G	GRCh38
NC_000005.9:g.110096911T>G , CM000667.1:g.110096911T>G	GRCh37
NC_000005.8:g.110124810T>G	NCBI36
NG_051334.1:g.28076T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.686T>G MANE Select	ENSP00000348211.3:p.Ile229Arg
ENST00000355943.7:c.686T>G	ENSP00000348211.3:p.Ile229Arg
ENST00000447245.6:c.679-236T>G	ENSP00000399717.2:n.679-236T>G
ENST00000502462.6:n.1002T>G
ENST00000504098.1:c.248T>G	ENSP00000425708.1:p.Ile83Arg
ENST00000509432.1:c.47T>G	ENSP00000426604.1:p.Ile16Arg
ENST00000513706.2:n.2286T>G
ENST00000513807.5:c.200T>G	ENSP00000421134.1:p.Ile67Arg
NM_001303249.1:c.679-236T>G	NP_001290178.1:n.679-236T>G
NM_001303250.1:c.413T>G	NP_001290179.1:p.Ile138Arg
NM_138773.2:c.686T>G	NP_620128.1:p.Ile229Arg
NM_001303249.2:c.679-236T>G	NP_001290178.1:n.679-236T>G
NM_001303250.2:c.413T>G	NP_001290179.1:p.Ile138Arg
NM_138773.3:c.686T>G	NP_620128.1:p.Ile229Arg
NR_138151.1:n.960T>G
NM_138773.4:c.686T>G MANE Select	NP_620128.1:p.Ile229Arg
NM_001303249.3:c.679-236T>G	NP_001290178.1:n.679-236T>G
NM_001303250.3:c.413T>G	NP_001290179.1:p.Ile138Arg
NR_138151.2:n.925T>G