Canonical Allele Identifier: CA360696168

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110096997C>A (hg19) ; chr5:g.110761297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761297C>A , CM000667.2:g.110761297C>A	GRCh38
NC_000005.9:g.110096997C>A , CM000667.1:g.110096997C>A	GRCh37
NC_000005.8:g.110124896C>A	NCBI36
NG_051334.1:g.28162C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.772C>A MANE Select	ENSP00000348211.3:p.Leu258Ile
ENST00000355943.7:c.772C>A	ENSP00000348211.3:p.Leu258Ile
ENST00000447245.6:c.679-150C>A	ENSP00000399717.2:n.679-150C>A
ENST00000502462.6:n.1088C>A
ENST00000504098.1:c.334C>A	ENSP00000425708.1:p.Leu112Ile
ENST00000509432.1:c.133C>A	ENSP00000426604.1:p.Leu45Ile
ENST00000513706.2:n.2372C>A
ENST00000513807.5:c.286C>A	ENSP00000421134.1:p.Leu96Ile
NM_001303249.1:c.679-150C>A	NP_001290178.1:n.679-150C>A
NM_001303250.1:c.499C>A	NP_001290179.1:p.Leu167Ile
NM_138773.2:c.772C>A	NP_620128.1:p.Leu258Ile
NM_001303249.2:c.679-150C>A	NP_001290178.1:n.679-150C>A
NM_001303250.2:c.499C>A	NP_001290179.1:p.Leu167Ile
NM_138773.3:c.772C>A	NP_620128.1:p.Leu258Ile
NR_138151.1:n.1046C>A
NM_138773.4:c.772C>A MANE Select	NP_620128.1:p.Leu258Ile
NM_001303249.3:c.679-150C>A	NP_001290178.1:n.679-150C>A
NM_001303250.3:c.499C>A	NP_001290179.1:p.Leu167Ile
NR_138151.2:n.1011C>A