Canonical Allele Identifier: CA360694347
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081973A>G (hg19) chr5:g.110746272A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746272A>G , CM000667.2:g.110746272A>G GRCh38
NC_000005.9:g.110081973A>G , CM000667.1:g.110081973A>G GRCh37
NC_000005.8:g.110109872A>G NCBI36
NG_051334.1:g.13137A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.388A>G MANE Select ENSP00000348211.3:p.Asn130Asp
ENST00000355943.7:c.388A>G ENSP00000348211.3:p.Asn130Asp
ENST00000447245.6:c.388A>G ENSP00000399717.2:p.Asn130Asp
ENST00000502462.6:n.704A>G
ENST00000504098.1:c.-51A>G ENSP00000425708.1:n.-51A>G
ENST00000508781.5:n.217A>G
ENST00000513807.5:c.-99A>G ENSP00000421134.1:n.-99A>G
NM_001303249.1:c.388A>G NP_001290178.1:p.Asn130Asp
NM_001303250.1:c.115A>G NP_001290179.1:p.Asn39Asp
NM_138773.2:c.388A>G NP_620128.1:p.Asn130Asp
XM_011543708.1:c.388A>G XP_011542010.1:p.Asn130Asp
NM_001303249.2:c.388A>G NP_001290178.1:p.Asn130Asp
NM_001303250.2:c.115A>G NP_001290179.1:p.Asn39Asp
NM_138773.3:c.388A>G NP_620128.1:p.Asn130Asp
NR_138151.1:n.536A>G
NM_138773.4:c.388A>G MANE Select NP_620128.1:p.Asn130Asp
NM_001303249.3:c.388A>G NP_001290178.1:p.Asn130Asp
NM_001303250.3:c.115A>G NP_001290179.1:p.Asn39Asp
NR_138151.2:n.501A>G
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