Canonical Allele Identifier: CA360694361
Gene: SLC25A46 HGNC NCBI

Linked Data

dbSNP Id: rs2150410325
gnomAD v4: 5-110746278-C-T
MyVariant Identifiers: chr5:g.110081979C>T (hg19) chr5:g.110746278C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.110746278C>T , CM000667.2:g.110746278C>T GRCh38
NC_000005.9:g.110081979C>T , CM000667.1:g.110081979C>T GRCh37
NC_000005.8:g.110109878C>T NCBI36
NG_051334.1:g.13143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355943.8:c.394C>T MANE Select ENSP00000348211.3:p.His132Tyr
ENST00000355943.7:c.394C>T ENSP00000348211.3:p.His132Tyr
ENST00000447245.6:c.394C>T ENSP00000399717.2:p.His132Tyr
ENST00000502462.6:n.710C>T
ENST00000504098.1:c.-45C>T ENSP00000425708.1:n.-45C>T
ENST00000508781.5:n.223C>T
ENST00000513807.5:c.-93C>T ENSP00000421134.1:n.-93C>T
NM_001303249.1:c.394C>T NP_001290178.1:p.His132Tyr
NM_001303250.1:c.121C>T NP_001290179.1:p.His41Tyr
NM_138773.2:c.394C>T NP_620128.1:p.His132Tyr
XM_011543708.1:c.394C>T XP_011542010.1:p.His132Tyr
NM_001303249.2:c.394C>T NP_001290178.1:p.His132Tyr
NM_001303250.2:c.121C>T NP_001290179.1:p.His41Tyr
NM_138773.3:c.394C>T NP_620128.1:p.His132Tyr
NR_138151.1:n.542C>T
NM_138773.4:c.394C>T MANE Select NP_620128.1:p.His132Tyr
NM_001303249.3:c.394C>T NP_001290178.1:p.His132Tyr
NM_001303250.3:c.121C>T NP_001290179.1:p.His41Tyr
NR_138151.2:n.507C>T
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