Canonical Allele Identifier: CA445802321
Gene: SLC25A46 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.110081972T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746271T>G , CM000667.2:g.110746271T>G GRCh38
NC_000005.9:g.110081972T>G , CM000667.1:g.110081972T>G GRCh37
NC_000005.8:g.110109871T>G NCBI36
NG_051334.1:g.13136T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.387T>G MANE Select ENSP00000348211.3:p.Val129=
ENST00000355943.7:c.387T>G ENSP00000348211.3:p.Val129=
ENST00000447245.6:c.387T>G ENSP00000399717.2:p.Val129=
ENST00000502462.6:n.703T>G
ENST00000504098.1:c.-52T>G ENSP00000425708.1:n.-52T>G
ENST00000508781.5:n.216T>G
ENST00000513807.5:c.-100T>G ENSP00000421134.1:n.-100T>G
NM_001303249.1:c.387T>G NP_001290178.1:p.Val129=
NM_001303250.1:c.114T>G NP_001290179.1:p.Val38=
NM_138773.2:c.387T>G NP_620128.1:p.Val129=
XM_011543708.1:c.387T>G XP_011542010.1:p.Val129=
NM_001303249.2:c.387T>G NP_001290178.1:p.Val129=
NM_001303250.2:c.114T>G NP_001290179.1:p.Val38=
NM_138773.3:c.387T>G NP_620128.1:p.Val129=
NR_138151.1:n.535T>G
NM_138773.4:c.387T>G MANE Select NP_620128.1:p.Val129=
NM_001303249.3:c.387T>G NP_001290178.1:p.Val129=
NM_001303250.3:c.114T>G NP_001290179.1:p.Val38=
NR_138151.2:n.500T>G
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