Canonical Allele Identifier: CA360697940

Gene: SLC25A46

Linked Data

• MyVariant Identifiers: chr5:g.110097468C>A (hg19) ; chr5:g.110761768C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761768C>A , CM000667.2:g.110761768C>A	GRCh38
NC_000005.9:g.110097468C>A , CM000667.1:g.110097468C>A	GRCh37
NC_000005.8:g.110125367C>A	NCBI36
NG_051334.1:g.28633C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.1243C>A MANE Select	ENSP00000348211.3:p.Gln415Lys
ENST00000355943.7:c.1243C>A	ENSP00000348211.3:p.Gln415Lys
ENST00000447245.6:c.1000C>A	ENSP00000399717.2:p.Gln334Lys
ENST00000504098.1:c.805C>A	ENSP00000425708.1:p.Gln269Lys
ENST00000509432.1:c.604C>A	ENSP00000426604.1:p.Gln202Lys
ENST00000513706.2:n.2843C>A
ENST00000513807.5:c.757C>A	ENSP00000421134.1:p.Gln253Lys
NM_001303249.1:c.1000C>A	NP_001290178.1:p.Gln334Lys
NM_001303250.1:c.970C>A	NP_001290179.1:p.Gln324Lys
NM_138773.2:c.1243C>A	NP_620128.1:p.Gln415Lys
NM_001303249.2:c.1000C>A	NP_001290178.1:p.Gln334Lys
NM_001303250.2:c.970C>A	NP_001290179.1:p.Gln324Lys
NM_138773.3:c.1243C>A	NP_620128.1:p.Gln415Lys
NR_138151.1:n.1517C>A
NM_138773.4:c.1243C>A MANE Select	NP_620128.1:p.Gln415Lys
NM_001303249.3:c.1000C>A	NP_001290178.1:p.Gln334Lys
NM_001303250.3:c.970C>A	NP_001290179.1:p.Gln324Lys
NR_138151.2:n.1482C>A