Canonical Allele Identifier: CA360696488

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097149T>A (hg19) ; chr5:g.110761449T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761449T>A , CM000667.2:g.110761449T>A	GRCh38
NC_000005.9:g.110097149T>A , CM000667.1:g.110097149T>A	GRCh37
NC_000005.8:g.110125048T>A	NCBI36
NG_051334.1:g.28314T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.924T>A MANE Select	ENSP00000348211.3:p.Ser308Arg
ENST00000355943.7:c.924T>A	ENSP00000348211.3:p.Ser308Arg
ENST00000447245.6:c.681T>A	ENSP00000399717.2:p.Ser227Arg
ENST00000502462.6:n.1240T>A
ENST00000504098.1:c.486T>A	ENSP00000425708.1:p.Ser162Arg
ENST00000509432.1:c.285T>A	ENSP00000426604.1:p.Ser95Arg
ENST00000513706.2:n.2524T>A
ENST00000513807.5:c.438T>A	ENSP00000421134.1:p.Ser146Arg
NM_001303249.1:c.681T>A	NP_001290178.1:p.Ser227Arg
NM_001303250.1:c.651T>A	NP_001290179.1:p.Ser217Arg
NM_138773.2:c.924T>A	NP_620128.1:p.Ser308Arg
NM_001303249.2:c.681T>A	NP_001290178.1:p.Ser227Arg
NM_001303250.2:c.651T>A	NP_001290179.1:p.Ser217Arg
NM_138773.3:c.924T>A	NP_620128.1:p.Ser308Arg
NR_138151.1:n.1198T>A
NM_138773.4:c.924T>A MANE Select	NP_620128.1:p.Ser308Arg
NM_001303249.3:c.681T>A	NP_001290178.1:p.Ser227Arg
NM_001303250.3:c.651T>A	NP_001290179.1:p.Ser217Arg
NR_138151.2:n.1163T>A