Canonical Allele Identifier: CA360697796

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097430T>A (hg19) ; chr5:g.110761730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761730T>A , CM000667.2:g.110761730T>A	GRCh38
NC_000005.9:g.110097430T>A , CM000667.1:g.110097430T>A	GRCh37
NC_000005.8:g.110125329T>A	NCBI36
NG_051334.1:g.28595T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1205T>A MANE Select	ENSP00000348211.3:p.Val402Asp
ENST00000355943.7:c.1205T>A	ENSP00000348211.3:p.Val402Asp
ENST00000447245.6:c.962T>A	ENSP00000399717.2:p.Val321Asp
ENST00000504098.1:c.767T>A	ENSP00000425708.1:p.Val256Asp
ENST00000509432.1:c.566T>A	ENSP00000426604.1:p.Val189Asp
ENST00000513706.2:n.2805T>A
ENST00000513807.5:c.719T>A	ENSP00000421134.1:p.Val240Asp
NM_001303249.1:c.962T>A	NP_001290178.1:p.Val321Asp
NM_001303250.1:c.932T>A	NP_001290179.1:p.Val311Asp
NM_138773.2:c.1205T>A	NP_620128.1:p.Val402Asp
NM_001303249.2:c.962T>A	NP_001290178.1:p.Val321Asp
NM_001303250.2:c.932T>A	NP_001290179.1:p.Val311Asp
NM_138773.3:c.1205T>A	NP_620128.1:p.Val402Asp
NR_138151.1:n.1479T>A
NM_138773.4:c.1205T>A MANE Select	NP_620128.1:p.Val402Asp
NM_001303249.3:c.962T>A	NP_001290178.1:p.Val321Asp
NM_001303250.3:c.932T>A	NP_001290179.1:p.Val311Asp
NR_138151.2:n.1444T>A