Canonical Allele Identifier: CA360697669

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097399G>T (hg19) ; chr5:g.110761699G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761699G>T , CM000667.2:g.110761699G>T	GRCh38
NC_000005.9:g.110097399G>T , CM000667.1:g.110097399G>T	GRCh37
NC_000005.8:g.110125298G>T	NCBI36
NG_051334.1:g.28564G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1174G>T MANE Select	ENSP00000348211.3:p.Val392Phe
ENST00000355943.7:c.1174G>T	ENSP00000348211.3:p.Val392Phe
ENST00000447245.6:c.931G>T	ENSP00000399717.2:p.Val311Phe
ENST00000504098.1:c.736G>T	ENSP00000425708.1:p.Val246Phe
ENST00000509432.1:c.535G>T	ENSP00000426604.1:p.Val179Phe
ENST00000513706.2:n.2774G>T
ENST00000513807.5:c.688G>T	ENSP00000421134.1:p.Val230Phe
NM_001303249.1:c.931G>T	NP_001290178.1:p.Val311Phe
NM_001303250.1:c.901G>T	NP_001290179.1:p.Val301Phe
NM_138773.2:c.1174G>T	NP_620128.1:p.Val392Phe
NM_001303249.2:c.931G>T	NP_001290178.1:p.Val311Phe
NM_001303250.2:c.901G>T	NP_001290179.1:p.Val301Phe
NM_138773.3:c.1174G>T	NP_620128.1:p.Val392Phe
NR_138151.1:n.1448G>T
NM_138773.4:c.1174G>T MANE Select	NP_620128.1:p.Val392Phe
NM_001303249.3:c.931G>T	NP_001290178.1:p.Val311Phe
NM_001303250.3:c.901G>T	NP_001290179.1:p.Val301Phe
NR_138151.2:n.1413G>T