Canonical Allele Identifier: CA360696014

Gene: SLC25A46

Linked Data

• dbSNP Id: rs1800239770
• MyVariant Identifiers: chr5:g.110096923A>G (hg19) ; chr5:g.110761223A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.110761223A>G , CM000667.2:g.110761223A>G	GRCh38
NC_000005.9:g.110096923A>G , CM000667.1:g.110096923A>G	GRCh37
NC_000005.8:g.110124822A>G	NCBI36
NG_051334.1:g.28088A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355943.8:c.698A>G MANE Select	ENSP00000348211.3:p.Asn233Ser
ENST00000355943.7:c.698A>G	ENSP00000348211.3:p.Asn233Ser
ENST00000447245.6:c.679-224A>G	ENSP00000399717.2:n.679-224A>G
ENST00000502462.6:n.1014A>G
ENST00000504098.1:c.260A>G	ENSP00000425708.1:p.Asn87Ser
ENST00000509432.1:c.59A>G	ENSP00000426604.1:p.Asn20Ser
ENST00000513706.2:n.2298A>G
ENST00000513807.5:c.212A>G	ENSP00000421134.1:p.Asn71Ser
NM_001303249.1:c.679-224A>G	NP_001290178.1:n.679-224A>G
NM_001303250.1:c.425A>G	NP_001290179.1:p.Asn142Ser
NM_138773.2:c.698A>G	NP_620128.1:p.Asn233Ser
NM_001303249.2:c.679-224A>G	NP_001290178.1:n.679-224A>G
NM_001303250.2:c.425A>G	NP_001290179.1:p.Asn142Ser
NM_138773.3:c.698A>G	NP_620128.1:p.Asn233Ser
NR_138151.1:n.972A>G
NM_138773.4:c.698A>G MANE Select	NP_620128.1:p.Asn233Ser
NM_001303249.3:c.679-224A>G	NP_001290178.1:n.679-224A>G
NM_001303250.3:c.425A>G	NP_001290179.1:p.Asn142Ser
NR_138151.2:n.937A>G