Canonical Allele Identifier: CA125344935

Gene: SLC25A46

Linked Data

• ClinVar Variation Id: 1368508
• ClinVar RCV Id: RCV001867528
• dbSNP Id: rs894545180
• gnomAD v4: 5-110761456-G-A
• MyVariant Identifiers: chr5:g.110097156G>A (hg19) ; chr5:g.110761456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761456G>A , CM000667.2:g.110761456G>A	GRCh38
NC_000005.9:g.110097156G>A , CM000667.1:g.110097156G>A	GRCh37
NC_000005.8:g.110125055G>A	NCBI36
NG_051334.1:g.28321G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.931G>A MANE Select	ENSP00000348211.3:p.Asp311Asn
ENST00000355943.7:c.931G>A	ENSP00000348211.3:p.Asp311Asn
ENST00000447245.6:c.688G>A	ENSP00000399717.2:p.Asp230Asn
ENST00000502462.6:n.1247G>A
ENST00000504098.1:c.493G>A	ENSP00000425708.1:p.Asp165Asn
ENST00000509432.1:c.292G>A	ENSP00000426604.1:p.Asp98Asn
ENST00000513706.2:n.2531G>A
ENST00000513807.5:c.445G>A	ENSP00000421134.1:p.Asp149Asn
NM_001303249.1:c.688G>A	NP_001290178.1:p.Asp230Asn
NM_001303250.1:c.658G>A	NP_001290179.1:p.Asp220Asn
NM_138773.2:c.931G>A	NP_620128.1:p.Asp311Asn
NM_001303249.2:c.688G>A	NP_001290178.1:p.Asp230Asn
NM_001303250.2:c.658G>A	NP_001290179.1:p.Asp220Asn
NM_138773.3:c.931G>A	NP_620128.1:p.Asp311Asn
NR_138151.1:n.1205G>A
NM_138773.4:c.931G>A MANE Select	NP_620128.1:p.Asp311Asn
NM_001303249.3:c.688G>A	NP_001290178.1:p.Asp230Asn
NM_001303250.3:c.658G>A	NP_001290179.1:p.Asp220Asn
NR_138151.2:n.1170G>A