Canonical Allele Identifier: CA3364832

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 475789
• ClinVar RCV Id: RCV000539451 ; RCV002404559
• dbSNP Id: rs776771749
• ExAC: 5:110097473 T / C
• gnomAD v2: 5-110097473-T-C
• gnomAD v3: 5-110761773-T-C
• gnomAD v4: 5-110761773-T-C
• MyVariant Identifiers: chr5:g.110097473T>C (hg19) ; chr5:g.110761773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761773T>C , CM000667.2:g.110761773T>C	GRCh38
NC_000005.9:g.110097473T>C , CM000667.1:g.110097473T>C	GRCh37
NC_000005.8:g.110125372T>C	NCBI36
NG_051334.1:g.28638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1248T>C MANE Select	ENSP00000348211.3:p.Asn416=
ENST00000355943.7:c.1248T>C	ENSP00000348211.3:p.Asn416=
ENST00000447245.6:c.1005T>C	ENSP00000399717.2:p.Asn335=
ENST00000504098.1:c.810T>C	ENSP00000425708.1:p.Asn270=
ENST00000509432.1:c.609T>C	ENSP00000426604.1:p.Asn203=
ENST00000513706.2:n.2848T>C
ENST00000513807.5:c.762T>C	ENSP00000421134.1:p.Asn254=
NM_001303249.1:c.1005T>C	NP_001290178.1:p.Asn335=
NM_001303250.1:c.975T>C	NP_001290179.1:p.Asn325=
NM_138773.2:c.1248T>C	NP_620128.1:p.Asn416=
NM_001303249.2:c.1005T>C	NP_001290178.1:p.Asn335=
NM_001303250.2:c.975T>C	NP_001290179.1:p.Asn325=
NM_138773.3:c.1248T>C	NP_620128.1:p.Asn416=
NR_138151.1:n.1522T>C
NM_138773.4:c.1248T>C MANE Select	NP_620128.1:p.Asn416=
NM_001303249.3:c.1005T>C	NP_001290178.1:p.Asn335=
NM_001303250.3:c.975T>C	NP_001290179.1:p.Asn325=
NR_138151.2:n.1487T>C