Canonical Allele Identifier: CA360696507

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1465932976
• gnomAD v2: 5-110097159-G-A
• gnomAD v4: 5-110761459-G-A
• MyVariant Identifiers: chr5:g.110097159G>A (hg19) ; chr5:g.110761459G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761459G>A , CM000667.2:g.110761459G>A	GRCh38
NC_000005.9:g.110097159G>A , CM000667.1:g.110097159G>A	GRCh37
NC_000005.8:g.110125058G>A	NCBI36
NG_051334.1:g.28324G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.934G>A MANE Select	ENSP00000348211.3:p.Ala312Thr
ENST00000355943.7:c.934G>A	ENSP00000348211.3:p.Ala312Thr
ENST00000447245.6:c.691G>A	ENSP00000399717.2:p.Ala231Thr
ENST00000502462.6:n.1250G>A
ENST00000504098.1:c.496G>A	ENSP00000425708.1:p.Ala166Thr
ENST00000509432.1:c.295G>A	ENSP00000426604.1:p.Ala99Thr
ENST00000513706.2:n.2534G>A
ENST00000513807.5:c.448G>A	ENSP00000421134.1:p.Ala150Thr
NM_001303249.1:c.691G>A	NP_001290178.1:p.Ala231Thr
NM_001303250.1:c.661G>A	NP_001290179.1:p.Ala221Thr
NM_138773.2:c.934G>A	NP_620128.1:p.Ala312Thr
NM_001303249.2:c.691G>A	NP_001290178.1:p.Ala231Thr
NM_001303250.2:c.661G>A	NP_001290179.1:p.Ala221Thr
NM_138773.3:c.934G>A	NP_620128.1:p.Ala312Thr
NR_138151.1:n.1208G>A
NM_138773.4:c.934G>A MANE Select	NP_620128.1:p.Ala312Thr
NM_001303249.3:c.691G>A	NP_001290178.1:p.Ala231Thr
NM_001303250.3:c.661G>A	NP_001290179.1:p.Ala221Thr
NR_138151.2:n.1173G>A