Canonical Allele Identifier: CA360696727

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097229A>C (hg19) ; chr5:g.110761529A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761529A>C , CM000667.2:g.110761529A>C	GRCh38
NC_000005.9:g.110097229A>C , CM000667.1:g.110097229A>C	GRCh37
NC_000005.8:g.110125128A>C	NCBI36
NG_051334.1:g.28394A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000355943.8:c.1004A>C MANE Select	ENSP00000348211.3:p.Glu335Ala
ENST00000355943.7:c.1004A>C	ENSP00000348211.3:p.Glu335Ala
ENST00000447245.6:c.761A>C	ENSP00000399717.2:p.Glu254Ala
ENST00000502462.6:n.1320A>C
ENST00000504098.1:c.566A>C	ENSP00000425708.1:p.Glu189Ala
ENST00000509432.1:c.365A>C	ENSP00000426604.1:p.Glu122Ala
ENST00000513706.2:n.2604A>C
ENST00000513807.5:c.518A>C	ENSP00000421134.1:p.Glu173Ala
NM_001303249.1:c.761A>C	NP_001290178.1:p.Glu254Ala
NM_001303250.1:c.731A>C	NP_001290179.1:p.Glu244Ala
NM_138773.2:c.1004A>C	NP_620128.1:p.Glu335Ala
NM_001303249.2:c.761A>C	NP_001290178.1:p.Glu254Ala
NM_001303250.2:c.731A>C	NP_001290179.1:p.Glu244Ala
NM_138773.3:c.1004A>C	NP_620128.1:p.Glu335Ala
NR_138151.1:n.1278A>C
NM_138773.4:c.1004A>C MANE Select	NP_620128.1:p.Glu335Ala
NM_001303249.3:c.761A>C	NP_001290178.1:p.Glu254Ala
NM_001303250.3:c.731A>C	NP_001290179.1:p.Glu244Ala
NR_138151.2:n.1243A>C