Canonical Allele Identifier: CA360697506

Gene: SLC25A46

Linked Data

• gnomAD v4: 5-110761663-G-A
• MyVariant Identifiers: chr5:g.110097363G>A (hg19) ; chr5:g.110761663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761663G>A , CM000667.2:g.110761663G>A	GRCh38
NC_000005.9:g.110097363G>A , CM000667.1:g.110097363G>A	GRCh37
NC_000005.8:g.110125262G>A	NCBI36
NG_051334.1:g.28528G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1138G>A MANE Select	ENSP00000348211.3:p.Glu380Lys
ENST00000355943.7:c.1138G>A	ENSP00000348211.3:p.Glu380Lys
ENST00000447245.6:c.895G>A	ENSP00000399717.2:p.Glu299Lys
ENST00000504098.1:c.700G>A	ENSP00000425708.1:p.Glu234Lys
ENST00000509432.1:c.499G>A	ENSP00000426604.1:p.Glu167Lys
ENST00000513706.2:n.2738G>A
ENST00000513807.5:c.652G>A	ENSP00000421134.1:p.Glu218Lys
NM_001303249.1:c.895G>A	NP_001290178.1:p.Glu299Lys
NM_001303250.1:c.865G>A	NP_001290179.1:p.Glu289Lys
NM_138773.2:c.1138G>A	NP_620128.1:p.Glu380Lys
NM_001303249.2:c.895G>A	NP_001290178.1:p.Glu299Lys
NM_001303250.2:c.865G>A	NP_001290179.1:p.Glu289Lys
NM_138773.3:c.1138G>A	NP_620128.1:p.Glu380Lys
NR_138151.1:n.1412G>A
NM_138773.4:c.1138G>A MANE Select	NP_620128.1:p.Glu380Lys
NM_001303249.3:c.895G>A	NP_001290178.1:p.Glu299Lys
NM_001303250.3:c.865G>A	NP_001290179.1:p.Glu289Lys
NR_138151.2:n.1377G>A