Canonical Allele Identifier: CA360696489

Gene: SLC25A46

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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