Canonical Allele Identifier: CA360697829

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 583282
• ClinVar RCV Id: RCV000707575
• dbSNP Id: rs1561610274
• MyVariant Identifiers: chr5:g.110097438A>G (hg19) ; chr5:g.110761738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761738A>G , CM000667.2:g.110761738A>G	GRCh38
NC_000005.9:g.110097438A>G , CM000667.1:g.110097438A>G	GRCh37
NC_000005.8:g.110125337A>G	NCBI36
NG_051334.1:g.28603A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1213A>G MANE Select	ENSP00000348211.3:p.Ile405Val
ENST00000355943.7:c.1213A>G	ENSP00000348211.3:p.Ile405Val
ENST00000447245.6:c.970A>G	ENSP00000399717.2:p.Ile324Val
ENST00000504098.1:c.775A>G	ENSP00000425708.1:p.Ile259Val
ENST00000509432.1:c.574A>G	ENSP00000426604.1:p.Ile192Val
ENST00000513706.2:n.2813A>G
ENST00000513807.5:c.727A>G	ENSP00000421134.1:p.Ile243Val
NM_001303249.1:c.970A>G	NP_001290178.1:p.Ile324Val
NM_001303250.1:c.940A>G	NP_001290179.1:p.Ile314Val
NM_138773.2:c.1213A>G	NP_620128.1:p.Ile405Val
NM_001303249.2:c.970A>G	NP_001290178.1:p.Ile324Val
NM_001303250.2:c.940A>G	NP_001290179.1:p.Ile314Val
NM_138773.3:c.1213A>G	NP_620128.1:p.Ile405Val
NR_138151.1:n.1487A>G
NM_138773.4:c.1213A>G MANE Select	NP_620128.1:p.Ile405Val
NM_001303249.3:c.970A>G	NP_001290178.1:p.Ile324Val
NM_001303250.3:c.940A>G	NP_001290179.1:p.Ile314Val
NR_138151.2:n.1452A>G