Canonical Allele Identifier: CA360696105

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096965T>A (hg19) ; chr5:g.110761265T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761265T>A , CM000667.2:g.110761265T>A	GRCh38
NC_000005.9:g.110096965T>A , CM000667.1:g.110096965T>A	GRCh37
NC_000005.8:g.110124864T>A	NCBI36
NG_051334.1:g.28130T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.740T>A MANE Select	ENSP00000348211.3:p.Val247Glu
ENST00000355943.7:c.740T>A	ENSP00000348211.3:p.Val247Glu
ENST00000447245.6:c.679-182T>A	ENSP00000399717.2:n.679-182T>A
ENST00000502462.6:n.1056T>A
ENST00000504098.1:c.302T>A	ENSP00000425708.1:p.Val101Glu
ENST00000509432.1:c.101T>A	ENSP00000426604.1:p.Val34Glu
ENST00000513706.2:n.2340T>A
ENST00000513807.5:c.254T>A	ENSP00000421134.1:p.Val85Glu
NM_001303249.1:c.679-182T>A	NP_001290178.1:n.679-182T>A
NM_001303250.1:c.467T>A	NP_001290179.1:p.Val156Glu
NM_138773.2:c.740T>A	NP_620128.1:p.Val247Glu
NM_001303249.2:c.679-182T>A	NP_001290178.1:n.679-182T>A
NM_001303250.2:c.467T>A	NP_001290179.1:p.Val156Glu
NM_138773.3:c.740T>A	NP_620128.1:p.Val247Glu
NR_138151.1:n.1014T>A
NM_138773.4:c.740T>A MANE Select	NP_620128.1:p.Val247Glu
NM_001303249.3:c.679-182T>A	NP_001290178.1:n.679-182T>A
NM_001303250.3:c.467T>A	NP_001290179.1:p.Val156Glu
NR_138151.2:n.979T>A