Canonical Allele Identifier: CA360696165

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 559386
• ClinVar RCV Id: RCV000677091
• dbSNP Id: rs1184021143
• gnomAD v2: 5-110096995-G-A
• gnomAD v4: 5-110761295-G-A
• COSMIC: COSM1432083
• MyVariant Identifiers: chr5:g.110096995G>A (hg19) ; chr5:g.110761295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761295G>A , CM000667.2:g.110761295G>A	GRCh38
NC_000005.9:g.110096995G>A , CM000667.1:g.110096995G>A	GRCh37
NC_000005.8:g.110124894G>A	NCBI36
NG_051334.1:g.28160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.770G>A MANE Select	ENSP00000348211.3:p.Arg257Gln
ENST00000355943.7:c.770G>A	ENSP00000348211.3:p.Arg257Gln
ENST00000447245.6:c.679-152G>A	ENSP00000399717.2:n.679-152G>A
ENST00000502462.6:n.1086G>A
ENST00000504098.1:c.332G>A	ENSP00000425708.1:p.Arg111Gln
ENST00000509432.1:c.131G>A	ENSP00000426604.1:p.Arg44Gln
ENST00000513706.2:n.2370G>A
ENST00000513807.5:c.284G>A	ENSP00000421134.1:p.Arg95Gln
NM_001303249.1:c.679-152G>A	NP_001290178.1:n.679-152G>A
NM_001303250.1:c.497G>A	NP_001290179.1:p.Arg166Gln
NM_138773.2:c.770G>A	NP_620128.1:p.Arg257Gln
NM_001303249.2:c.679-152G>A	NP_001290178.1:n.679-152G>A
NM_001303250.2:c.497G>A	NP_001290179.1:p.Arg166Gln
NM_138773.3:c.770G>A	NP_620128.1:p.Arg257Gln
NR_138151.1:n.1044G>A
NM_138773.4:c.770G>A MANE Select	NP_620128.1:p.Arg257Gln
NM_001303249.3:c.679-152G>A	NP_001290178.1:n.679-152G>A
NM_001303250.3:c.497G>A	NP_001290179.1:p.Arg166Gln
NR_138151.2:n.1009G>A