Canonical Allele Identifier: CA125344944

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1656613
• ClinVar RCV Id: RCV002161915
• dbSNP Id: rs530497959
• gnomAD v2: 5-110097443-C-A
• gnomAD v3: 5-110761743-C-A
• gnomAD v4: 5-110761743-C-A
• MyVariant Identifiers: chr5:g.110097443C>A (hg19) ; chr5:g.110761743C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761743C>A , CM000667.2:g.110761743C>A	GRCh38
NC_000005.9:g.110097443C>A , CM000667.1:g.110097443C>A	GRCh37
NC_000005.8:g.110125342C>A	NCBI36
NG_051334.1:g.28608C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1218C>A MANE Select	ENSP00000348211.3:p.Thr406=
ENST00000355943.7:c.1218C>A	ENSP00000348211.3:p.Thr406=
ENST00000447245.6:c.975C>A	ENSP00000399717.2:p.Thr325=
ENST00000504098.1:c.780C>A	ENSP00000425708.1:p.Thr260=
ENST00000509432.1:c.579C>A	ENSP00000426604.1:p.Thr193=
ENST00000513706.2:n.2818C>A
ENST00000513807.5:c.732C>A	ENSP00000421134.1:p.Thr244=
NM_001303249.1:c.975C>A	NP_001290178.1:p.Thr325=
NM_001303250.1:c.945C>A	NP_001290179.1:p.Thr315=
NM_138773.2:c.1218C>A	NP_620128.1:p.Thr406=
NM_001303249.2:c.975C>A	NP_001290178.1:p.Thr325=
NM_001303250.2:c.945C>A	NP_001290179.1:p.Thr315=
NM_138773.3:c.1218C>A	NP_620128.1:p.Thr406=
NR_138151.1:n.1492C>A
NM_138773.4:c.1218C>A MANE Select	NP_620128.1:p.Thr406=
NM_001303249.3:c.975C>A	NP_001290178.1:p.Thr325=
NM_001303250.3:c.945C>A	NP_001290179.1:p.Thr315=
NR_138151.2:n.1457C>A